Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia

Summary Phenylketonuria (PKU) is an autosomal recessive disorder resulting in neurological and intellectual disability when untreated. However, even in treated patients there may be residual neurological impairment such as tremor. It has been suggested that the hyperphenylalaninaemia in patients wit...
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Autor*in:	Kyprianou, N. [verfasserIn] Murphy, E. [verfasserIn] Lee, P. [verfasserIn] Hargreaves, I. [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2009

Schlagwörter:	CoQ10 Mitochondrial Respiratory Chain Mitochondrial Respiratory Chain Complex CoQ10 Level Human Astrocytoma Cell

Übergeordnetes Werk:	Enthalten in: Journal of inherited metabolic disease - Hoboken, NJ : Wiley, 1978, 32(2009), 2 vom: 13. März, Seite 289-296
Übergeordnetes Werk:	volume:32 ; year:2009 ; number:2 ; day:13 ; month:03 ; pages:289-296

Links:	Volltext

DOI / URN:	10.1007/s10545-009-1080-5

Katalog-ID:	SPR011374780

Internformat


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245	1	0	\|a Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia
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520			\|a Summary Phenylketonuria (PKU) is an autosomal recessive disorder resulting in neurological and intellectual disability when untreated. However, even in treated patients there may be residual neurological impairment such as tremor. It has been suggested that the hyperphenylalaninaemia in patients with PKU reduces complex I (NADH:ubiquinone reductase) activity of the mitochondrial respiratory chain (MRC) and/or biosynthesis of coenzyme $ Q_{10} $ ($ CoQ_{10} $), which acts as an electron carrier in the MRC, leading to impaired energy metabolism in the brain of patients with PKU and hence the neurological pathology. The aim of this study was to elucidate the mechanism of phenylalanine (Phe) toxicity on the MRC. We compared mean plasma and blood-spot Phe and mononuclear $ CoQ_{10} $ levels in 17 patients with PKU and a tremor compared to 22 patients without tremor. Human 1321N1 astrocytoma cells were exposed to hyperphenylalaninaemia by the addition of 300 or 900 μmol/L of Phe to the cell culture medium. Following 96 h of culture we measured complex I and citrate synthase activities and $ CoQ_{10} $ level. Results showed no significant difference in Phe or $ CoQ_{10} $ levels in patients with tremor compared to those without tremor. Further, hyperphenylalaninaemia did not cause a significant reduction in complex I activity or $ CoQ_{10} $ biosynthesis, even when taking into account the mitochondrial enrichment of the cell samples by expressing complex I and $ CoQ_{10} $ as a ratio to citrate synthase. In conclusion, the results of this study suggest that hyperphenylalaninaemia does not contribute to the pathophysiology of PKU by causing a decrease in MRC complex I activity and/or $ CoQ_{10} $ biosynthesis.
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700	1		\|a Lee, P. \|e verfasserin \|4 aut
700	1		\|a Hargreaves, I. \|e verfasserin \|4 aut
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912			\|a GBV_ILN_170
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912			\|a GBV_ILN_293
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912			\|a GBV_ILN_2010
912			\|a GBV_ILN_2011
912			\|a GBV_ILN_2014
912			\|a GBV_ILN_2015
912			\|a GBV_ILN_2020
912			\|a GBV_ILN_2021
912			\|a GBV_ILN_2025
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912			\|a GBV_ILN_2027
912			\|a GBV_ILN_2031
912			\|a GBV_ILN_2034
912			\|a GBV_ILN_2037
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912			\|a GBV_ILN_2055
912			\|a GBV_ILN_2056
912			\|a GBV_ILN_2057
912			\|a GBV_ILN_2059
912			\|a GBV_ILN_2061
912			\|a GBV_ILN_2064
912			\|a GBV_ILN_2065
912			\|a GBV_ILN_2068
912			\|a GBV_ILN_2070
912			\|a GBV_ILN_2086
912			\|a GBV_ILN_2088
912			\|a GBV_ILN_2093
912			\|a GBV_ILN_2106
912			\|a GBV_ILN_2108
912			\|a GBV_ILN_2110
912			\|a GBV_ILN_2111
912			\|a GBV_ILN_2112
912			\|a GBV_ILN_2113
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Indexfelder

author_variant	n k nk e m em p l pl i h ih
matchkey_str	article:15732665:2009----::sesetfiohnrarsiaoyhifntoihp
hierarchy_sort_str	2009
bklnumber	44.48 44.33
publishDate	2009
allfields	10.1007/s10545-009-1080-5 doi (DE-627)SPR011374780 (SPR)s10545-009-1080-5-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl 44.33 bkl Kyprianou, N. verfasserin aut Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia 2009 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Summary Phenylketonuria (PKU) is an autosomal recessive disorder resulting in neurological and intellectual disability when untreated. However, even in treated patients there may be residual neurological impairment such as tremor. It has been suggested that the hyperphenylalaninaemia in patients with PKU reduces complex I (NADH:ubiquinone reductase) activity of the mitochondrial respiratory chain (MRC) and/or biosynthesis of coenzyme $ Q_{10} $ ($ CoQ_{10} $), which acts as an electron carrier in the MRC, leading to impaired energy metabolism in the brain of patients with PKU and hence the neurological pathology. The aim of this study was to elucidate the mechanism of phenylalanine (Phe) toxicity on the MRC. We compared mean plasma and blood-spot Phe and mononuclear $ CoQ_{10} $ levels in 17 patients with PKU and a tremor compared to 22 patients without tremor. Human 1321N1 astrocytoma cells were exposed to hyperphenylalaninaemia by the addition of 300 or 900 μmol/L of Phe to the cell culture medium. Following 96 h of culture we measured complex I and citrate synthase activities and $ CoQ_{10} $ level. Results showed no significant difference in Phe or $ CoQ_{10} $ levels in patients with tremor compared to those without tremor. Further, hyperphenylalaninaemia did not cause a significant reduction in complex I activity or $ CoQ_{10} $ biosynthesis, even when taking into account the mitochondrial enrichment of the cell samples by expressing complex I and $ CoQ_{10} $ as a ratio to citrate synthase. In conclusion, the results of this study suggest that hyperphenylalaninaemia does not contribute to the pathophysiology of PKU by causing a decrease in MRC complex I activity and/or $ CoQ_{10} $ biosynthesis. CoQ10 (dpeaa)DE-He213 Mitochondrial Respiratory Chain (dpeaa)DE-He213 Mitochondrial Respiratory Chain Complex (dpeaa)DE-He213 CoQ10 Level (dpeaa)DE-He213 Human Astrocytoma Cell (dpeaa)DE-He213 Murphy, E. verfasserin aut Lee, P. verfasserin aut Hargreaves, I. verfasserin aut Enthalten in Journal of inherited metabolic disease Hoboken, NJ : Wiley, 1978 32(2009), 2 vom: 13. März, Seite 289-296 (DE-627)320457753 (DE-600)2006875-X 1573-2665 nnns volume:32 year:2009 number:2 day:13 month:03 pages:289-296 https://dx.doi.org/10.1007/s10545-009-1080-5 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_266 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.48 ASE 44.33 ASE AR 32 2009 2 13 03 289-296
spelling	10.1007/s10545-009-1080-5 doi (DE-627)SPR011374780 (SPR)s10545-009-1080-5-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl 44.33 bkl Kyprianou, N. verfasserin aut Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia 2009 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Summary Phenylketonuria (PKU) is an autosomal recessive disorder resulting in neurological and intellectual disability when untreated. However, even in treated patients there may be residual neurological impairment such as tremor. It has been suggested that the hyperphenylalaninaemia in patients with PKU reduces complex I (NADH:ubiquinone reductase) activity of the mitochondrial respiratory chain (MRC) and/or biosynthesis of coenzyme $ Q_{10} $ ($ CoQ_{10} $), which acts as an electron carrier in the MRC, leading to impaired energy metabolism in the brain of patients with PKU and hence the neurological pathology. The aim of this study was to elucidate the mechanism of phenylalanine (Phe) toxicity on the MRC. We compared mean plasma and blood-spot Phe and mononuclear $ CoQ_{10} $ levels in 17 patients with PKU and a tremor compared to 22 patients without tremor. Human 1321N1 astrocytoma cells were exposed to hyperphenylalaninaemia by the addition of 300 or 900 μmol/L of Phe to the cell culture medium. Following 96 h of culture we measured complex I and citrate synthase activities and $ CoQ_{10} $ level. Results showed no significant difference in Phe or $ CoQ_{10} $ levels in patients with tremor compared to those without tremor. Further, hyperphenylalaninaemia did not cause a significant reduction in complex I activity or $ CoQ_{10} $ biosynthesis, even when taking into account the mitochondrial enrichment of the cell samples by expressing complex I and $ CoQ_{10} $ as a ratio to citrate synthase. In conclusion, the results of this study suggest that hyperphenylalaninaemia does not contribute to the pathophysiology of PKU by causing a decrease in MRC complex I activity and/or $ CoQ_{10} $ biosynthesis. CoQ10 (dpeaa)DE-He213 Mitochondrial Respiratory Chain (dpeaa)DE-He213 Mitochondrial Respiratory Chain Complex (dpeaa)DE-He213 CoQ10 Level (dpeaa)DE-He213 Human Astrocytoma Cell (dpeaa)DE-He213 Murphy, E. verfasserin aut Lee, P. verfasserin aut Hargreaves, I. verfasserin aut Enthalten in Journal of inherited metabolic disease Hoboken, NJ : Wiley, 1978 32(2009), 2 vom: 13. März, Seite 289-296 (DE-627)320457753 (DE-600)2006875-X 1573-2665 nnns volume:32 year:2009 number:2 day:13 month:03 pages:289-296 https://dx.doi.org/10.1007/s10545-009-1080-5 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_266 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.48 ASE 44.33 ASE AR 32 2009 2 13 03 289-296
allfields_unstemmed	10.1007/s10545-009-1080-5 doi (DE-627)SPR011374780 (SPR)s10545-009-1080-5-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl 44.33 bkl Kyprianou, N. verfasserin aut Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia 2009 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Summary Phenylketonuria (PKU) is an autosomal recessive disorder resulting in neurological and intellectual disability when untreated. However, even in treated patients there may be residual neurological impairment such as tremor. It has been suggested that the hyperphenylalaninaemia in patients with PKU reduces complex I (NADH:ubiquinone reductase) activity of the mitochondrial respiratory chain (MRC) and/or biosynthesis of coenzyme $ Q_{10} $ ($ CoQ_{10} $), which acts as an electron carrier in the MRC, leading to impaired energy metabolism in the brain of patients with PKU and hence the neurological pathology. The aim of this study was to elucidate the mechanism of phenylalanine (Phe) toxicity on the MRC. We compared mean plasma and blood-spot Phe and mononuclear $ CoQ_{10} $ levels in 17 patients with PKU and a tremor compared to 22 patients without tremor. Human 1321N1 astrocytoma cells were exposed to hyperphenylalaninaemia by the addition of 300 or 900 μmol/L of Phe to the cell culture medium. Following 96 h of culture we measured complex I and citrate synthase activities and $ CoQ_{10} $ level. Results showed no significant difference in Phe or $ CoQ_{10} $ levels in patients with tremor compared to those without tremor. Further, hyperphenylalaninaemia did not cause a significant reduction in complex I activity or $ CoQ_{10} $ biosynthesis, even when taking into account the mitochondrial enrichment of the cell samples by expressing complex I and $ CoQ_{10} $ as a ratio to citrate synthase. In conclusion, the results of this study suggest that hyperphenylalaninaemia does not contribute to the pathophysiology of PKU by causing a decrease in MRC complex I activity and/or $ CoQ_{10} $ biosynthesis. CoQ10 (dpeaa)DE-He213 Mitochondrial Respiratory Chain (dpeaa)DE-He213 Mitochondrial Respiratory Chain Complex (dpeaa)DE-He213 CoQ10 Level (dpeaa)DE-He213 Human Astrocytoma Cell (dpeaa)DE-He213 Murphy, E. verfasserin aut Lee, P. verfasserin aut Hargreaves, I. verfasserin aut Enthalten in Journal of inherited metabolic disease Hoboken, NJ : Wiley, 1978 32(2009), 2 vom: 13. März, Seite 289-296 (DE-627)320457753 (DE-600)2006875-X 1573-2665 nnns volume:32 year:2009 number:2 day:13 month:03 pages:289-296 https://dx.doi.org/10.1007/s10545-009-1080-5 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_266 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.48 ASE 44.33 ASE AR 32 2009 2 13 03 289-296
allfieldsGer	10.1007/s10545-009-1080-5 doi (DE-627)SPR011374780 (SPR)s10545-009-1080-5-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl 44.33 bkl Kyprianou, N. verfasserin aut Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia 2009 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Summary Phenylketonuria (PKU) is an autosomal recessive disorder resulting in neurological and intellectual disability when untreated. However, even in treated patients there may be residual neurological impairment such as tremor. It has been suggested that the hyperphenylalaninaemia in patients with PKU reduces complex I (NADH:ubiquinone reductase) activity of the mitochondrial respiratory chain (MRC) and/or biosynthesis of coenzyme $ Q_{10} $ ($ CoQ_{10} $), which acts as an electron carrier in the MRC, leading to impaired energy metabolism in the brain of patients with PKU and hence the neurological pathology. The aim of this study was to elucidate the mechanism of phenylalanine (Phe) toxicity on the MRC. We compared mean plasma and blood-spot Phe and mononuclear $ CoQ_{10} $ levels in 17 patients with PKU and a tremor compared to 22 patients without tremor. Human 1321N1 astrocytoma cells were exposed to hyperphenylalaninaemia by the addition of 300 or 900 μmol/L of Phe to the cell culture medium. Following 96 h of culture we measured complex I and citrate synthase activities and $ CoQ_{10} $ level. Results showed no significant difference in Phe or $ CoQ_{10} $ levels in patients with tremor compared to those without tremor. Further, hyperphenylalaninaemia did not cause a significant reduction in complex I activity or $ CoQ_{10} $ biosynthesis, even when taking into account the mitochondrial enrichment of the cell samples by expressing complex I and $ CoQ_{10} $ as a ratio to citrate synthase. In conclusion, the results of this study suggest that hyperphenylalaninaemia does not contribute to the pathophysiology of PKU by causing a decrease in MRC complex I activity and/or $ CoQ_{10} $ biosynthesis. CoQ10 (dpeaa)DE-He213 Mitochondrial Respiratory Chain (dpeaa)DE-He213 Mitochondrial Respiratory Chain Complex (dpeaa)DE-He213 CoQ10 Level (dpeaa)DE-He213 Human Astrocytoma Cell (dpeaa)DE-He213 Murphy, E. verfasserin aut Lee, P. verfasserin aut Hargreaves, I. verfasserin aut Enthalten in Journal of inherited metabolic disease Hoboken, NJ : Wiley, 1978 32(2009), 2 vom: 13. März, Seite 289-296 (DE-627)320457753 (DE-600)2006875-X 1573-2665 nnns volume:32 year:2009 number:2 day:13 month:03 pages:289-296 https://dx.doi.org/10.1007/s10545-009-1080-5 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_266 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.48 ASE 44.33 ASE AR 32 2009 2 13 03 289-296
allfieldsSound	10.1007/s10545-009-1080-5 doi (DE-627)SPR011374780 (SPR)s10545-009-1080-5-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl 44.33 bkl Kyprianou, N. verfasserin aut Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia 2009 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Summary Phenylketonuria (PKU) is an autosomal recessive disorder resulting in neurological and intellectual disability when untreated. However, even in treated patients there may be residual neurological impairment such as tremor. It has been suggested that the hyperphenylalaninaemia in patients with PKU reduces complex I (NADH:ubiquinone reductase) activity of the mitochondrial respiratory chain (MRC) and/or biosynthesis of coenzyme $ Q_{10} $ ($ CoQ_{10} $), which acts as an electron carrier in the MRC, leading to impaired energy metabolism in the brain of patients with PKU and hence the neurological pathology. The aim of this study was to elucidate the mechanism of phenylalanine (Phe) toxicity on the MRC. We compared mean plasma and blood-spot Phe and mononuclear $ CoQ_{10} $ levels in 17 patients with PKU and a tremor compared to 22 patients without tremor. Human 1321N1 astrocytoma cells were exposed to hyperphenylalaninaemia by the addition of 300 or 900 μmol/L of Phe to the cell culture medium. Following 96 h of culture we measured complex I and citrate synthase activities and $ CoQ_{10} $ level. Results showed no significant difference in Phe or $ CoQ_{10} $ levels in patients with tremor compared to those without tremor. Further, hyperphenylalaninaemia did not cause a significant reduction in complex I activity or $ CoQ_{10} $ biosynthesis, even when taking into account the mitochondrial enrichment of the cell samples by expressing complex I and $ CoQ_{10} $ as a ratio to citrate synthase. In conclusion, the results of this study suggest that hyperphenylalaninaemia does not contribute to the pathophysiology of PKU by causing a decrease in MRC complex I activity and/or $ CoQ_{10} $ biosynthesis. CoQ10 (dpeaa)DE-He213 Mitochondrial Respiratory Chain (dpeaa)DE-He213 Mitochondrial Respiratory Chain Complex (dpeaa)DE-He213 CoQ10 Level (dpeaa)DE-He213 Human Astrocytoma Cell (dpeaa)DE-He213 Murphy, E. verfasserin aut Lee, P. verfasserin aut Hargreaves, I. verfasserin aut Enthalten in Journal of inherited metabolic disease Hoboken, NJ : Wiley, 1978 32(2009), 2 vom: 13. März, Seite 289-296 (DE-627)320457753 (DE-600)2006875-X 1573-2665 nnns volume:32 year:2009 number:2 day:13 month:03 pages:289-296 https://dx.doi.org/10.1007/s10545-009-1080-5 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_266 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.48 ASE 44.33 ASE AR 32 2009 2 13 03 289-296
language	English
source	Enthalten in Journal of inherited metabolic disease 32(2009), 2 vom: 13. März, Seite 289-296 volume:32 year:2009 number:2 day:13 month:03 pages:289-296
sourceStr	Enthalten in Journal of inherited metabolic disease 32(2009), 2 vom: 13. März, Seite 289-296 volume:32 year:2009 number:2 day:13 month:03 pages:289-296
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	CoQ10 Mitochondrial Respiratory Chain Mitochondrial Respiratory Chain Complex CoQ10 Level Human Astrocytoma Cell
dewey-raw	610
isfreeaccess_bool	false
container_title	Journal of inherited metabolic disease
authorswithroles_txt_mv	Kyprianou, N. @@aut@@ Murphy, E. @@aut@@ Lee, P. @@aut@@ Hargreaves, I. @@aut@@
publishDateDaySort_date	2009-03-13T00:00:00Z
hierarchy_top_id	320457753
dewey-sort	3610
id	SPR011374780
language_de	englisch
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However, even in treated patients there may be residual neurological impairment such as tremor. It has been suggested that the hyperphenylalaninaemia in patients with PKU reduces complex I (NADH:ubiquinone reductase) activity of the mitochondrial respiratory chain (MRC) and/or biosynthesis of coenzyme $ Q_{10} $ ($ CoQ_{10} $), which acts as an electron carrier in the MRC, leading to impaired energy metabolism in the brain of patients with PKU and hence the neurological pathology. The aim of this study was to elucidate the mechanism of phenylalanine (Phe) toxicity on the MRC. We compared mean plasma and blood-spot Phe and mononuclear $ CoQ_{10} $ levels in 17 patients with PKU and a tremor compared to 22 patients without tremor. Human 1321N1 astrocytoma cells were exposed to hyperphenylalaninaemia by the addition of 300 or 900 μmol/L of Phe to the cell culture medium. Following 96 h of culture we measured complex I and citrate synthase activities and $ CoQ_{10} $ level. 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author	Kyprianou, N.
spellingShingle	Kyprianou, N. ddc 610 bkl 44.48 bkl 44.33 misc CoQ10 misc Mitochondrial Respiratory Chain misc Mitochondrial Respiratory Chain Complex misc CoQ10 Level misc Human Astrocytoma Cell Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia
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topic_title	610 ASE 44.48 bkl 44.33 bkl Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia CoQ10 (dpeaa)DE-He213 Mitochondrial Respiratory Chain (dpeaa)DE-He213 Mitochondrial Respiratory Chain Complex (dpeaa)DE-He213 CoQ10 Level (dpeaa)DE-He213 Human Astrocytoma Cell (dpeaa)DE-He213
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title	Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia
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title_full	Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia
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title_sort	assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia
title_auth	Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia
abstract	Summary Phenylketonuria (PKU) is an autosomal recessive disorder resulting in neurological and intellectual disability when untreated. However, even in treated patients there may be residual neurological impairment such as tremor. It has been suggested that the hyperphenylalaninaemia in patients with PKU reduces complex I (NADH:ubiquinone reductase) activity of the mitochondrial respiratory chain (MRC) and/or biosynthesis of coenzyme $ Q_{10} $ ($ CoQ_{10} $), which acts as an electron carrier in the MRC, leading to impaired energy metabolism in the brain of patients with PKU and hence the neurological pathology. The aim of this study was to elucidate the mechanism of phenylalanine (Phe) toxicity on the MRC. We compared mean plasma and blood-spot Phe and mononuclear $ CoQ_{10} $ levels in 17 patients with PKU and a tremor compared to 22 patients without tremor. Human 1321N1 astrocytoma cells were exposed to hyperphenylalaninaemia by the addition of 300 or 900 μmol/L of Phe to the cell culture medium. Following 96 h of culture we measured complex I and citrate synthase activities and $ CoQ_{10} $ level. Results showed no significant difference in Phe or $ CoQ_{10} $ levels in patients with tremor compared to those without tremor. Further, hyperphenylalaninaemia did not cause a significant reduction in complex I activity or $ CoQ_{10} $ biosynthesis, even when taking into account the mitochondrial enrichment of the cell samples by expressing complex I and $ CoQ_{10} $ as a ratio to citrate synthase. In conclusion, the results of this study suggest that hyperphenylalaninaemia does not contribute to the pathophysiology of PKU by causing a decrease in MRC complex I activity and/or $ CoQ_{10} $ biosynthesis.
abstractGer	Summary Phenylketonuria (PKU) is an autosomal recessive disorder resulting in neurological and intellectual disability when untreated. However, even in treated patients there may be residual neurological impairment such as tremor. It has been suggested that the hyperphenylalaninaemia in patients with PKU reduces complex I (NADH:ubiquinone reductase) activity of the mitochondrial respiratory chain (MRC) and/or biosynthesis of coenzyme $ Q_{10} $ ($ CoQ_{10} $), which acts as an electron carrier in the MRC, leading to impaired energy metabolism in the brain of patients with PKU and hence the neurological pathology. The aim of this study was to elucidate the mechanism of phenylalanine (Phe) toxicity on the MRC. We compared mean plasma and blood-spot Phe and mononuclear $ CoQ_{10} $ levels in 17 patients with PKU and a tremor compared to 22 patients without tremor. Human 1321N1 astrocytoma cells were exposed to hyperphenylalaninaemia by the addition of 300 or 900 μmol/L of Phe to the cell culture medium. Following 96 h of culture we measured complex I and citrate synthase activities and $ CoQ_{10} $ level. Results showed no significant difference in Phe or $ CoQ_{10} $ levels in patients with tremor compared to those without tremor. Further, hyperphenylalaninaemia did not cause a significant reduction in complex I activity or $ CoQ_{10} $ biosynthesis, even when taking into account the mitochondrial enrichment of the cell samples by expressing complex I and $ CoQ_{10} $ as a ratio to citrate synthase. In conclusion, the results of this study suggest that hyperphenylalaninaemia does not contribute to the pathophysiology of PKU by causing a decrease in MRC complex I activity and/or $ CoQ_{10} $ biosynthesis.
abstract_unstemmed	Summary Phenylketonuria (PKU) is an autosomal recessive disorder resulting in neurological and intellectual disability when untreated. However, even in treated patients there may be residual neurological impairment such as tremor. It has been suggested that the hyperphenylalaninaemia in patients with PKU reduces complex I (NADH:ubiquinone reductase) activity of the mitochondrial respiratory chain (MRC) and/or biosynthesis of coenzyme $ Q_{10} $ ($ CoQ_{10} $), which acts as an electron carrier in the MRC, leading to impaired energy metabolism in the brain of patients with PKU and hence the neurological pathology. The aim of this study was to elucidate the mechanism of phenylalanine (Phe) toxicity on the MRC. We compared mean plasma and blood-spot Phe and mononuclear $ CoQ_{10} $ levels in 17 patients with PKU and a tremor compared to 22 patients without tremor. Human 1321N1 astrocytoma cells were exposed to hyperphenylalaninaemia by the addition of 300 or 900 μmol/L of Phe to the cell culture medium. Following 96 h of culture we measured complex I and citrate synthase activities and $ CoQ_{10} $ level. Results showed no significant difference in Phe or $ CoQ_{10} $ levels in patients with tremor compared to those without tremor. Further, hyperphenylalaninaemia did not cause a significant reduction in complex I activity or $ CoQ_{10} $ biosynthesis, even when taking into account the mitochondrial enrichment of the cell samples by expressing complex I and $ CoQ_{10} $ as a ratio to citrate synthase. In conclusion, the results of this study suggest that hyperphenylalaninaemia does not contribute to the pathophysiology of PKU by causing a decrease in MRC complex I activity and/or $ CoQ_{10} $ biosynthesis.
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container_issue	2
title_short	Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia
url	https://dx.doi.org/10.1007/s10545-009-1080-5
remote_bool	true
author2	Murphy, E. Lee, P. Hargreaves, I.
author2Str	Murphy, E. Lee, P. Hargreaves, I.
ppnlink	320457753
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isOA_txt	false
hochschulschrift_bool	false
doi_str	10.1007/s10545-009-1080-5
up_date	2024-07-03T22:15:43.809Z
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Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia

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