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ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
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ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
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Journal Article
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
2006
Overview
We recently identified angiogenin (
ANG
) as a candidate susceptibility gene for amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder characterized by adult-onset loss of motor neurons. We now report the finding of seven missense mutations in 15 individuals, of whom four had familial ALS and 11 apparently 'sporadic' ALS. Our findings provide further evidence that variations in hypoxia-inducible genes have an important role in motor neuron degeneration.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Aged
/ Amyotrophic lateral sclerosis
/ Amyotrophic Lateral Sclerosis - genetics
/ Animal Genetics and Genomics
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Cerebrospinal fluid. Meninges. Spinal cord
/ Complications and side effects
/ Female
/ Fundamental and applied biological sciences. Psychology
/ Genetics
/ Genetics of eukaryotes. Biological and molecular evolution
/ Humans
/ Hypoxia
/ Identification and classification
/ Male
/ Methods
/ Mutation
/ Nervous system (semeiology, syndromes)
/ Pedigree
/ Ribonuclease, Pancreatic - chemistry
