Hi all,
Thought you may be interested in the following:
Researchers identify autism risk gene
Thursday, April 1, 2004 Posted: 2:26 PM EST (1926 GMT)
http://www.cnn.com/2004/HEALTH/conditions/...s.ap/index.html
NEW YORK (AP) -- Scientists say they've identified two variants of a single gene that might raise a child's risk of autism by twofold or more.
The variants are fairly common and can't bring on the disease by themselves, the researchers said. Scientists believe several genes, perhaps five to 10, have to work together to produce autism.
Previous studies have identified variants in other genes that might contribute to the disease but none has been proven to do so. Finding autism-related genes might help scientists develop treatments for the perplexing disorder.
The new work provides strong evidence that the gene influences susceptibility to autism, but more studies will be needed to confirm the link, said lead study author Joseph Buxbaum of the Mount Sinai School of Medicine in New York.
"It looks like they might have something there ... but it's a bit too soon to say definitively," said Susan Santangelo, a Harvard expert not involved in the study.
The study appears in the April issue of the American Journal of Psychiatry.
Autism, which normally appears by age 3 and usually in boys, interferes with a child's ability to communicate and interact with others. Affected children might not respond to their names or even look at other people.
The new study looked at 411 families, analyzing DNA from more than 2,000 people. Of those, 720 had autism.
The study found that the two gene variants had been inherited by family members with autism more often than one would expect by chance. That implicates the variants in the disease.
The gene is involved in providing energy to brain cells, so variant versions might hamper the operation of those cells, the researchers said.
American Journal of Psychiatry. 2004 April;161(4):Pp 662-9.
Linkage and Association of the Mitochondrial Aspartate/Glutamate Carrier SLC25A12 Gene With Autism.
Ramoz N, Reichert JG, Smith CJ, Silverman JM, Bespalova IN, Davis KL, Buxbaum JD.
OBJECTIVE: Autism/autistic disorder (MIM number 209850) is a complex, largely genetic psychiatric disorder. The authors recently mapped a susceptibility locus for autism to chromosome region 2q24-q33 (MIM number 606053). In the present study, genes across the 2q24-q33 interval were analyzed to identify an autism susceptibility gene in this region.
METHOD: Mutation screening of positional candidate genes was performed in two stages. The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. Two single nucleotide polymorphisms (SNPs) that showed evidence for divergent distribution between autistic and nonautistic subjects were identified, both within SLC25A12, a gene encoding the mitochondrial aspartate/glutamate carrier (AGC1). In the second stage, the two SNPs in SLC25A12 were further genotyped in 411 autistic families, and linkage and association tests were carried out in the 197 informative families.
RESULTS: Linkage and association were observed between autistic disorder and the two SNPs, rs2056202 and rs2292813, found in SLC25A12. Using either a single affected subject per family or all affected subjects, evidence for excess transmission was found by the Transmission Disequilibrium Test for rs2056202, rs2292813, and a two-locus G*G haplotype. Similar results were observed using TRANSMIT for the analyses. Evidence for linkage was supported by linkage analysis with the two SNPs, with a maximal multipoint nonparametric linkage score of 1.57 and a maximal multipoint heterogeneity lod score of 2.11. Genotype relative risk could be estimated to be between 2.4 and 4.8 for persons homozygous at these loci.
CONCLUSIONS: A strong association of autism with SNPs within the SLC25A12 gene was demonstrated. Further studies are needed to confirm this association and to decipher any potential etiological role of AGC1 in autism.
Very interesting I think.
Look forward to hearing progress in the future.
spottedpelican