Sporadic ALS and chromosome 22: evidence for a possible neurofilament gene defect.
ALS is associated with the P2 blood group phenotype. Molecular evidence now shows the gene encoding this antigen to be on the long arm of human chromosome 22 near the newly discovered gene for heavy neurofilament (NF-H). Since an ALS-type condition can be generated in transgenic mice expressing the human NF-H gene, and since the gene for the CNTF-related cytokine leukemia inhibitory factor (LIF) is located adjacent to this gene, it is hypothesized that a defect on the chromosome 22 band region q12 is involved in the pathogenesis of sporadic ALS.
Meyer
M A
MA
Department of Internal Medicine (Neurology), University of Tennessee Medical Center, Knoxville.
Potter
N T
NT
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D000818:Animals; D002892:Chromosomes, Human, Pair 22; D006801:Humans; D009154:Mutation; D016900:Neurofilament Proteins / Q000235:genetics*
D016900:Neurofilament Proteins; C051774:neurofilament protein H