Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis
Abstract Angiogenin (ANG) gene, coding for an angiogenic factor up-regulated by hypoxia and expressed in ventral horn motor neurons, is a novel candidate for the pathogenesis of amyotrophic lateral sclerosis (ALS). ALS is a fatal neurodegenerative disease characterized by the selective loss of corti...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Gellera, Cinzia [verfasserIn] Colombrita, Claudia [verfasserIn] Ticozzi, Nicola [verfasserIn] Castellotti, Barbara [verfasserIn] Bragato, Cinzia [verfasserIn] Ratti, Antonia [verfasserIn] Taroni, Franco [verfasserIn] Silani, Vincenzo [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2007 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Neurogenetics - Springer-Verlag, 2001, 9(2007), 1 vom: 18. Dez., Seite 33-40 |
|---|---|
| Übergeordnetes Werk: |
volume:9 ; year:2007 ; number:1 ; day:18 ; month:12 ; pages:33-40 |
| Links: |
|---|
| DOI / URN: |
10.1007/s10048-007-0111-3 |
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SPR008230536 |
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| 520 | |a Abstract Angiogenin (ANG) gene, coding for an angiogenic factor up-regulated by hypoxia and expressed in ventral horn motor neurons, is a novel candidate for the pathogenesis of amyotrophic lateral sclerosis (ALS). ALS is a fatal neurodegenerative disease characterized by the selective loss of cortical and spinal motor neurons. Missense mutations in ANG gene have been identified in two ALS populations from Northern Europe and North America, both in familial (FALS) and sporadic (SALS) patients, but they do not seem to be frequent in the Italian population. We performed a mutational screening in a large cohort of 737 Italian ALS patients, including 605 SALS and 132 FALS cases. We identified seven different mutations, five of which are novel, in nine patients (six SALS and three FALS), but not in 515 healthy controls. Three mutations are located in the signal peptide region, three in the coding sequence, and one in the 3′ untranslated region. In our ALS population, the observed mutational frequency of ANG gene accounts for about 1.2%, with an overrepresentation of FALS (2.3%) compared to SALS (1%) cases. We also found the previously described I46V substitution in six patients and four controls, suggesting that this mutation may represent a benign variant, at least in the Italian population. Our results provide further evidence of a tight link between angiogenesis and ALS pathogenesis and suggest that mutations in ANG gene are associated with an increased risk to develop ALS. | ||
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10.1007/s10048-007-0111-3 doi (DE-627)SPR008230536 (SPR)s10048-007-0111-3-e DE-627 ger DE-627 rakwb eng Gellera, Cinzia verfasserin aut Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis 2007 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Angiogenin (ANG) gene, coding for an angiogenic factor up-regulated by hypoxia and expressed in ventral horn motor neurons, is a novel candidate for the pathogenesis of amyotrophic lateral sclerosis (ALS). ALS is a fatal neurodegenerative disease characterized by the selective loss of cortical and spinal motor neurons. Missense mutations in ANG gene have been identified in two ALS populations from Northern Europe and North America, both in familial (FALS) and sporadic (SALS) patients, but they do not seem to be frequent in the Italian population. We performed a mutational screening in a large cohort of 737 Italian ALS patients, including 605 SALS and 132 FALS cases. We identified seven different mutations, five of which are novel, in nine patients (six SALS and three FALS), but not in 515 healthy controls. Three mutations are located in the signal peptide region, three in the coding sequence, and one in the 3′ untranslated region. In our ALS population, the observed mutational frequency of ANG gene accounts for about 1.2%, with an overrepresentation of FALS (2.3%) compared to SALS (1%) cases. We also found the previously described I46V substitution in six patients and four controls, suggesting that this mutation may represent a benign variant, at least in the Italian population. Our results provide further evidence of a tight link between angiogenesis and ALS pathogenesis and suggest that mutations in ANG gene are associated with an increased risk to develop ALS. Motor neuron disease (dpeaa)DE-He213 Amyotrophic lateral sclerosis (dpeaa)DE-He213 Angiogenin (dpeaa)DE-He213 Case-control studies (dpeaa)DE-He213 Risk factors (dpeaa)DE-He213 Colombrita, Claudia verfasserin aut Ticozzi, Nicola verfasserin aut Castellotti, Barbara verfasserin aut Bragato, Cinzia verfasserin aut Ratti, Antonia verfasserin aut Taroni, Franco verfasserin aut Silani, Vincenzo verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 9(2007), 1 vom: 18. Dez., Seite 33-40 (DE-627)SPR00822823X nnns volume:9 year:2007 number:1 day:18 month:12 pages:33-40 https://dx.doi.org/10.1007/s10048-007-0111-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 9 2007 1 18 12 33-40 |
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10.1007/s10048-007-0111-3 doi (DE-627)SPR008230536 (SPR)s10048-007-0111-3-e DE-627 ger DE-627 rakwb eng Gellera, Cinzia verfasserin aut Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis 2007 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Angiogenin (ANG) gene, coding for an angiogenic factor up-regulated by hypoxia and expressed in ventral horn motor neurons, is a novel candidate for the pathogenesis of amyotrophic lateral sclerosis (ALS). ALS is a fatal neurodegenerative disease characterized by the selective loss of cortical and spinal motor neurons. Missense mutations in ANG gene have been identified in two ALS populations from Northern Europe and North America, both in familial (FALS) and sporadic (SALS) patients, but they do not seem to be frequent in the Italian population. We performed a mutational screening in a large cohort of 737 Italian ALS patients, including 605 SALS and 132 FALS cases. We identified seven different mutations, five of which are novel, in nine patients (six SALS and three FALS), but not in 515 healthy controls. Three mutations are located in the signal peptide region, three in the coding sequence, and one in the 3′ untranslated region. In our ALS population, the observed mutational frequency of ANG gene accounts for about 1.2%, with an overrepresentation of FALS (2.3%) compared to SALS (1%) cases. We also found the previously described I46V substitution in six patients and four controls, suggesting that this mutation may represent a benign variant, at least in the Italian population. Our results provide further evidence of a tight link between angiogenesis and ALS pathogenesis and suggest that mutations in ANG gene are associated with an increased risk to develop ALS. Motor neuron disease (dpeaa)DE-He213 Amyotrophic lateral sclerosis (dpeaa)DE-He213 Angiogenin (dpeaa)DE-He213 Case-control studies (dpeaa)DE-He213 Risk factors (dpeaa)DE-He213 Colombrita, Claudia verfasserin aut Ticozzi, Nicola verfasserin aut Castellotti, Barbara verfasserin aut Bragato, Cinzia verfasserin aut Ratti, Antonia verfasserin aut Taroni, Franco verfasserin aut Silani, Vincenzo verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 9(2007), 1 vom: 18. Dez., Seite 33-40 (DE-627)SPR00822823X nnns volume:9 year:2007 number:1 day:18 month:12 pages:33-40 https://dx.doi.org/10.1007/s10048-007-0111-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 9 2007 1 18 12 33-40 |
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10.1007/s10048-007-0111-3 doi (DE-627)SPR008230536 (SPR)s10048-007-0111-3-e DE-627 ger DE-627 rakwb eng Gellera, Cinzia verfasserin aut Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis 2007 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Angiogenin (ANG) gene, coding for an angiogenic factor up-regulated by hypoxia and expressed in ventral horn motor neurons, is a novel candidate for the pathogenesis of amyotrophic lateral sclerosis (ALS). ALS is a fatal neurodegenerative disease characterized by the selective loss of cortical and spinal motor neurons. Missense mutations in ANG gene have been identified in two ALS populations from Northern Europe and North America, both in familial (FALS) and sporadic (SALS) patients, but they do not seem to be frequent in the Italian population. We performed a mutational screening in a large cohort of 737 Italian ALS patients, including 605 SALS and 132 FALS cases. We identified seven different mutations, five of which are novel, in nine patients (six SALS and three FALS), but not in 515 healthy controls. Three mutations are located in the signal peptide region, three in the coding sequence, and one in the 3′ untranslated region. In our ALS population, the observed mutational frequency of ANG gene accounts for about 1.2%, with an overrepresentation of FALS (2.3%) compared to SALS (1%) cases. We also found the previously described I46V substitution in six patients and four controls, suggesting that this mutation may represent a benign variant, at least in the Italian population. Our results provide further evidence of a tight link between angiogenesis and ALS pathogenesis and suggest that mutations in ANG gene are associated with an increased risk to develop ALS. Motor neuron disease (dpeaa)DE-He213 Amyotrophic lateral sclerosis (dpeaa)DE-He213 Angiogenin (dpeaa)DE-He213 Case-control studies (dpeaa)DE-He213 Risk factors (dpeaa)DE-He213 Colombrita, Claudia verfasserin aut Ticozzi, Nicola verfasserin aut Castellotti, Barbara verfasserin aut Bragato, Cinzia verfasserin aut Ratti, Antonia verfasserin aut Taroni, Franco verfasserin aut Silani, Vincenzo verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 9(2007), 1 vom: 18. Dez., Seite 33-40 (DE-627)SPR00822823X nnns volume:9 year:2007 number:1 day:18 month:12 pages:33-40 https://dx.doi.org/10.1007/s10048-007-0111-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 9 2007 1 18 12 33-40 |
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10.1007/s10048-007-0111-3 doi (DE-627)SPR008230536 (SPR)s10048-007-0111-3-e DE-627 ger DE-627 rakwb eng Gellera, Cinzia verfasserin aut Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis 2007 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Angiogenin (ANG) gene, coding for an angiogenic factor up-regulated by hypoxia and expressed in ventral horn motor neurons, is a novel candidate for the pathogenesis of amyotrophic lateral sclerosis (ALS). ALS is a fatal neurodegenerative disease characterized by the selective loss of cortical and spinal motor neurons. Missense mutations in ANG gene have been identified in two ALS populations from Northern Europe and North America, both in familial (FALS) and sporadic (SALS) patients, but they do not seem to be frequent in the Italian population. We performed a mutational screening in a large cohort of 737 Italian ALS patients, including 605 SALS and 132 FALS cases. We identified seven different mutations, five of which are novel, in nine patients (six SALS and three FALS), but not in 515 healthy controls. Three mutations are located in the signal peptide region, three in the coding sequence, and one in the 3′ untranslated region. In our ALS population, the observed mutational frequency of ANG gene accounts for about 1.2%, with an overrepresentation of FALS (2.3%) compared to SALS (1%) cases. We also found the previously described I46V substitution in six patients and four controls, suggesting that this mutation may represent a benign variant, at least in the Italian population. Our results provide further evidence of a tight link between angiogenesis and ALS pathogenesis and suggest that mutations in ANG gene are associated with an increased risk to develop ALS. Motor neuron disease (dpeaa)DE-He213 Amyotrophic lateral sclerosis (dpeaa)DE-He213 Angiogenin (dpeaa)DE-He213 Case-control studies (dpeaa)DE-He213 Risk factors (dpeaa)DE-He213 Colombrita, Claudia verfasserin aut Ticozzi, Nicola verfasserin aut Castellotti, Barbara verfasserin aut Bragato, Cinzia verfasserin aut Ratti, Antonia verfasserin aut Taroni, Franco verfasserin aut Silani, Vincenzo verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 9(2007), 1 vom: 18. Dez., Seite 33-40 (DE-627)SPR00822823X nnns volume:9 year:2007 number:1 day:18 month:12 pages:33-40 https://dx.doi.org/10.1007/s10048-007-0111-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 9 2007 1 18 12 33-40 |
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10.1007/s10048-007-0111-3 doi (DE-627)SPR008230536 (SPR)s10048-007-0111-3-e DE-627 ger DE-627 rakwb eng Gellera, Cinzia verfasserin aut Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis 2007 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Angiogenin (ANG) gene, coding for an angiogenic factor up-regulated by hypoxia and expressed in ventral horn motor neurons, is a novel candidate for the pathogenesis of amyotrophic lateral sclerosis (ALS). ALS is a fatal neurodegenerative disease characterized by the selective loss of cortical and spinal motor neurons. Missense mutations in ANG gene have been identified in two ALS populations from Northern Europe and North America, both in familial (FALS) and sporadic (SALS) patients, but they do not seem to be frequent in the Italian population. We performed a mutational screening in a large cohort of 737 Italian ALS patients, including 605 SALS and 132 FALS cases. We identified seven different mutations, five of which are novel, in nine patients (six SALS and three FALS), but not in 515 healthy controls. Three mutations are located in the signal peptide region, three in the coding sequence, and one in the 3′ untranslated region. In our ALS population, the observed mutational frequency of ANG gene accounts for about 1.2%, with an overrepresentation of FALS (2.3%) compared to SALS (1%) cases. We also found the previously described I46V substitution in six patients and four controls, suggesting that this mutation may represent a benign variant, at least in the Italian population. Our results provide further evidence of a tight link between angiogenesis and ALS pathogenesis and suggest that mutations in ANG gene are associated with an increased risk to develop ALS. Motor neuron disease (dpeaa)DE-He213 Amyotrophic lateral sclerosis (dpeaa)DE-He213 Angiogenin (dpeaa)DE-He213 Case-control studies (dpeaa)DE-He213 Risk factors (dpeaa)DE-He213 Colombrita, Claudia verfasserin aut Ticozzi, Nicola verfasserin aut Castellotti, Barbara verfasserin aut Bragato, Cinzia verfasserin aut Ratti, Antonia verfasserin aut Taroni, Franco verfasserin aut Silani, Vincenzo verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 9(2007), 1 vom: 18. Dez., Seite 33-40 (DE-627)SPR00822823X nnns volume:9 year:2007 number:1 day:18 month:12 pages:33-40 https://dx.doi.org/10.1007/s10048-007-0111-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 9 2007 1 18 12 33-40 |
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Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis Motor neuron disease (dpeaa)DE-He213 Amyotrophic lateral sclerosis (dpeaa)DE-He213 Angiogenin (dpeaa)DE-He213 Case-control studies (dpeaa)DE-He213 Risk factors (dpeaa)DE-He213 |
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misc Motor neuron disease misc Amyotrophic lateral sclerosis misc Angiogenin misc Case-control studies misc Risk factors |
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Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis |
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Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis |
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Gellera, Cinzia |
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Neurogenetics |
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2007 |
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Gellera, Cinzia Colombrita, Claudia Ticozzi, Nicola Castellotti, Barbara Bragato, Cinzia Ratti, Antonia Taroni, Franco Silani, Vincenzo |
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9 |
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Gellera, Cinzia |
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10.1007/s10048-007-0111-3 |
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verfasserin |
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identification of new ang gene mutations in a large cohort of italian patients with amyotrophic lateral sclerosis |
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Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis |
| abstract |
Abstract Angiogenin (ANG) gene, coding for an angiogenic factor up-regulated by hypoxia and expressed in ventral horn motor neurons, is a novel candidate for the pathogenesis of amyotrophic lateral sclerosis (ALS). ALS is a fatal neurodegenerative disease characterized by the selective loss of cortical and spinal motor neurons. Missense mutations in ANG gene have been identified in two ALS populations from Northern Europe and North America, both in familial (FALS) and sporadic (SALS) patients, but they do not seem to be frequent in the Italian population. We performed a mutational screening in a large cohort of 737 Italian ALS patients, including 605 SALS and 132 FALS cases. We identified seven different mutations, five of which are novel, in nine patients (six SALS and three FALS), but not in 515 healthy controls. Three mutations are located in the signal peptide region, three in the coding sequence, and one in the 3′ untranslated region. In our ALS population, the observed mutational frequency of ANG gene accounts for about 1.2%, with an overrepresentation of FALS (2.3%) compared to SALS (1%) cases. We also found the previously described I46V substitution in six patients and four controls, suggesting that this mutation may represent a benign variant, at least in the Italian population. Our results provide further evidence of a tight link between angiogenesis and ALS pathogenesis and suggest that mutations in ANG gene are associated with an increased risk to develop ALS. |
| abstractGer |
Abstract Angiogenin (ANG) gene, coding for an angiogenic factor up-regulated by hypoxia and expressed in ventral horn motor neurons, is a novel candidate for the pathogenesis of amyotrophic lateral sclerosis (ALS). ALS is a fatal neurodegenerative disease characterized by the selective loss of cortical and spinal motor neurons. Missense mutations in ANG gene have been identified in two ALS populations from Northern Europe and North America, both in familial (FALS) and sporadic (SALS) patients, but they do not seem to be frequent in the Italian population. We performed a mutational screening in a large cohort of 737 Italian ALS patients, including 605 SALS and 132 FALS cases. We identified seven different mutations, five of which are novel, in nine patients (six SALS and three FALS), but not in 515 healthy controls. Three mutations are located in the signal peptide region, three in the coding sequence, and one in the 3′ untranslated region. In our ALS population, the observed mutational frequency of ANG gene accounts for about 1.2%, with an overrepresentation of FALS (2.3%) compared to SALS (1%) cases. We also found the previously described I46V substitution in six patients and four controls, suggesting that this mutation may represent a benign variant, at least in the Italian population. Our results provide further evidence of a tight link between angiogenesis and ALS pathogenesis and suggest that mutations in ANG gene are associated with an increased risk to develop ALS. |
| abstract_unstemmed |
Abstract Angiogenin (ANG) gene, coding for an angiogenic factor up-regulated by hypoxia and expressed in ventral horn motor neurons, is a novel candidate for the pathogenesis of amyotrophic lateral sclerosis (ALS). ALS is a fatal neurodegenerative disease characterized by the selective loss of cortical and spinal motor neurons. Missense mutations in ANG gene have been identified in two ALS populations from Northern Europe and North America, both in familial (FALS) and sporadic (SALS) patients, but they do not seem to be frequent in the Italian population. We performed a mutational screening in a large cohort of 737 Italian ALS patients, including 605 SALS and 132 FALS cases. We identified seven different mutations, five of which are novel, in nine patients (six SALS and three FALS), but not in 515 healthy controls. Three mutations are located in the signal peptide region, three in the coding sequence, and one in the 3′ untranslated region. In our ALS population, the observed mutational frequency of ANG gene accounts for about 1.2%, with an overrepresentation of FALS (2.3%) compared to SALS (1%) cases. We also found the previously described I46V substitution in six patients and four controls, suggesting that this mutation may represent a benign variant, at least in the Italian population. Our results provide further evidence of a tight link between angiogenesis and ALS pathogenesis and suggest that mutations in ANG gene are associated with an increased risk to develop ALS. |
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Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis |
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Colombrita, Claudia Ticozzi, Nicola Castellotti, Barbara Bragato, Cinzia Ratti, Antonia Taroni, Franco Silani, Vincenzo |
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Colombrita, Claudia Ticozzi, Nicola Castellotti, Barbara Bragato, Cinzia Ratti, Antonia Taroni, Franco Silani, Vincenzo |
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