A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosis
| Autor: | Rosaria Plasmati, Ilaria Bartolomei, Giovanna Cenacchi, Annalisa Pession, Luca Morandi, Fabrizio Salvi, Dario de Biase, Michela Visani |
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| Přispěvatelé: | Michela Visani, Dario de Biase, Ilaria Bartolomei, Rosaria Plasmati, Luca Morandi, Giovanna Cenacchi, Fabrizio Salvi, Annalisa Pession |
| Rok vydání: | 2011 |
| Předmět: |
Adult
Male SOD1 Molecular Sequence Data AMYOTROPHIC LATERAL Mutation Missense Biology medicine.disease_cause Protein Structure Secondary Exon Superoxide Dismutase-1 medicine Missense mutation Humans Amyotrophic lateral sclerosis Gene Heterozygous mutation Aged Genetics Mutation Base Sequence Superoxide Dismutase Amyotrophic Lateral Sclerosis General Medicine Middle Aged medicine.disease Pedigree Neurology Italy Female Neurology (clinical) |
| Zdroj: | Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases. 12(5) |
| ISSN: | 1471-180X |
| Popis: | Mutations in the superoxide dismutase-1 (SOD1) gene occur in some forms of familial amyotrophic lateral sclerosis (ALS). To date about 150 mutations are known to involve this gene. Here we describe a novel missense mutation in exon 5 of the SOD1 gene in an Italian family with two members affected by ALS. Sequencing of the SOD1 gene was performed on 11 members of the family and 75 healthy controls. Electron microscopy was also performed on one ALS patient. We identified a heterozygous mutation in codon 137 leading to substitution of threonine by alanine. Further studies are needed to clarify the role of this alteration in ALS aetiopathogensis; nevertheless, T137A seems to represent a new missense mutation of the SOD1 gene in ALS patients. |
| Databáze: | OpenAIRE |
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