Guest guest Posted October 4, 2001 Report Share Posted October 4, 2001 The discovery of the first gene linked to PLS, and the second gene linked to ALS, were reported today. Two independent teams of scientists reported in today's issue of the journal Nature Genetics that they have found a gene that can cause either a rare form of juvenile onset ALS OR a rare form of juvenile onset PLS. The gene is an autosomal recessive gene, and has been named ALS2. Whether a mutation in the ALS2 gene causes ALS or PLS depends on the mutation. A mutation found in one specific place on the ALS2 gene causes juvenile onset ALS. Either one of two mutations in other locations on the ALS2 gene cause juvenile onset PLS. The leader of one of the teams was Teepu Siddique, M.D. of Northwestern University Medical School's Department of Cell and Molecular Biology. " We think there are about a dozen genes involved in ALS. We've now gotten two of them and know the rough locations of another two, " said Dr Siddique, as quoted by Gorner in today's issue of the Chicago Tribune. (See http://www.chicagotribune.com/news/nationworld/chi-0110040308oct04.story ) The Tribune article also contained the following: " The other genes shouldn't take us so long to find, " Dr. Siddique said, expecting that some of them will not directly cause the disease but may make someone more vulnerable. " For the first time, we have the tools to dissect these genes and learn, step-by-step, how nerve cells degenerate. That hopefully will lead us to molecular targets we can hit with new drugs. " The ALS2 gene encodes a protein called " alsin " . Dr. Siddique theorizes that the mutated form of ALS2 that causes juvenile onset PLS may create a form of the alsin protein that still retains partial function, and causes PLS. More significant loss of function of the alsin protein caused by other mutations to ALS2 result in ALS. The articles are: Yang et al., " The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis " , Nature genetics, Vol. 29, October, 2001, pp. 160-165. Hadano et al., " A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 " , Nature genetics, Vol. 29, October, 2001, pp. 166-173. See also an editorial in Nature Genetics: Shaw, " Genetic inroads in familial ALS " , Nature genetics, Vol. 29, October, 2001, pp. 103-104. __________________________________________________ Quote Link to comment Share on other sites More sharing options...
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