Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese

摘要: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by selective motor neuron death in the brain and spinal cord. Many genes for ALS have been identified; however, each gene responsible very small fractions of ALS. Recently, mutations encoding optineurin (OPTN) are reported familial sporadic OPTN also number ALS, 3.8% 0.29% Japanese. The low prevalence may be an underestimation due to incomplete screening mutation. To examine more extensively, we screened deletions using quantitative PCR system. We examined 710 Japanese subjects who had previously found no PCR-direct sequence strategy. identified 3 kinds 5 patients; one was homozygous, remaining were heterozygous. All occurred Alu-mediated recombination expected result null alleles. Our results suggest that deletion mutation not infrequent considerably high.