Premium
Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene
Author(s) -
Subramony S. H.,
Ashizawa Tetsuo,
Langford Leigh,
Mckenna Robert,
Avvaru Balu,
Siddique Teepu,
Vedanarayanan V.
Publication year - 2011
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.22117
Subject(s) - sod1 , amyotrophic lateral sclerosis , mutation , superoxide dismutase , genetics , phenotype , gene , serine , biology , medicine , mutant , oxidative stress , disease , phosphorylation
A Gly41Ser mutation in the superoxide dismutase 1 gene ( SOD1 ) has been reported to cause a very rapid course of amyotrophic lateral sclerosis (ALS) in a limited number of Italian patients, but a Gly41Asp mutation results in a more benign course. Methods: Four members of an African American family with autosomal dominant ALS were evaluated clinically over 12 years. Mutation analysis of SOD1 was done on 1 patient. Results: All patients had a pure lower motor neuron syndrome with onset to death in 9–15 months. A Gly41Ser mutation in SOD1 was established. In silico modeling suggested that this mutation can have a more deleterious effect than a Gly41Asp mutation. Conclusion: The more rapid course of ALS with the Gly41Ser SOD1 mutation is confirmed in a distinct ethnic group. Muscle Nerve, 2011