Genetic inroads in familial ALS.
Amyotrophic lateral sclerosis (ALS) is a common neurodegenerative disease causing cell death of motor neurons and progressive muscle weakness. The disease is familial in ten percent of cases, of which one-fifth are due to mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1). Two papers in this issue of Nature Genetics describe homozygous mutations in a new gene on chromosome 2q33 in 4 families of Arabian origin with a rare form of juvenile onset ALS (ALS2). The predicted protein structure has domains homologous to GTPase regulatory proteins, and both the types of mutation and the pattern of inheritance suggest that motor neuron degeneration is the result of a loss of function. Further work will determine the relevance of this breakthrough to other, more common forms of ALS.
Shaw
P J
PJ
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D010641:Phenotype