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| IDENTIFICATION OF NEW MUTATIONS IN THE CU/ZN SUPEROXIDE-DISMUTASE GENE OF PATIENTS WITH FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS |
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| Author(s): PRAMATAROVA A, FIGLEWICZ DA, KRIZUS A, HAN FY, CEBALLOSPICOT I, NICOLE A, DIB M, MEININGER V, BROWN RH, ROULEAU GA |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 56 Issue: 3 Pages: 592-596 Published: MAR 1995 |
| Times Cited: 93 References: 16 |
| Abstract: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder affecting motor neurons. Although most cases of ALS are sporadic, similar to 10% are inherited as an autosomal dominant trait. Mutations in the Cu/Zn superoxide dismutase gene (SOD 1) are responsible for a fraction of familial ALS (FALS). Screening our FALS kindreds by SSCP, we have identified mutations in 15 families, of which 9 have not been previously reported. Two of the new mutations alter amino acids that have never been implicated in FALS. One of them affects a highly conserved amino acid involved in dimer contact, and the other one affects the active-site loop of the enzyme. These two mutations reduce significantly SOD 1 enzyme activity in lymphoblasts. Our results suggest that SOD 1 mutations are responsible for greater than or equal to 13% of FALS cases. |
| Document Type: Article |
| Language: English |
Addresses:
1. MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4 CANADA
2. MCGILL UNIV, CTR RES NEUROSCI, MONTREAL, PQ H3A 2T5 CANADA
3. UNIV ROCHESTER, MED CTR, DEPT NEUROL, ROCHESTER, NY 14642 USA
4. HOP NECKER ENFANTS MALAD, DEPT BIOCHIM MED B, PARIS, FRANCE
5. HOP HOTEL DIEU, CTR DIAGNOST, CTR SLA, PARIS, FRANCE
6. MASSACHUSETTS GEN HOSP E, DAY NEUROMUSCULAR RES LAB, BOSTON, MA USA |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: QK918 |
| ISSN: 0002-9297 |
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