Scientists say they have identified a gene which may increase therisk of developing autism. The gene is involved in the production of ATP – a molecule that provides the energy cells need to function. Researchers in the United States said the risk only applies topeople with a certain genetic make-up. Writing in the American Journal of Psychiatry, they said as many as10 different genes may be involved in the development of autism.
Autism affects about one in every 1,000 people. It is adevelopmental disability that affects the way a person communicates and interacts with other people. “Having one of these variants appears to approximately double an individuals risk for the disorder” – Dr Joseph Buxbaum People with autism can have problems relating to other people and to the world at large. They can have problems understanding people’s feelings or making friends. There is growing evidence that the condition may be inherited.
Studies suggest parents with one child with autism are 100 times more likely tohave another child with the condition compared to other families. However, scientists agree that the condition is complex and thatmore than one gene is involved. Gene tests Dr Joseph Buxbaum and colleagues at Mount Sinai School of Medicinein New York carried out genetic tests on 411 families, who have members with autism. They found that they all had variations in the SLC25A12 gene, whichis involved in the production of ATP.
The researchers suggested this flaw could disrupt the production of the fuel cells need. They said even minor disruptions could affect the ability of cells to function properly. However, the researchers said the genetic variations they identified in this study appear to be quite common. By themselves, they do not cause autism. They said people withautism probably have this and other genetic mutations. “Having one of these variants appears to approximately double an individuals risk for the disorder, but it is an accumulation of genetic factors that cause the disease,” Dr Buxbaum said.
“Our current challengeis to identify more of these genes.” He added: “Identifying all or most of the genes involved will leadto new diagnostic tools and new approaches to treatment.”
The National Autistic Society welcomed the study. “Scientists over the world are engaged on looking for the genetic roots of autism,” a spokeswoman said. “Some are looking at other chromosomes as loci for possible genes.The NAS welcomes any research which furthers our understanding of the causeand possible treatment of autism.”
Editor’s note: No abstract on this research is yet available. However, a quick search of PubMed produced three recent papers that mention the SLC25A12 gene:
Begum L, Jalil MA, Kobayashi K, Iijima M, Li MX, Yasuda T, Horiuchi M, del Arco A, Satrustegui J, Saheki T. Related Articles, Links Expression of three mitochondrial solute carriers, citrin, aralar1 and ornithine transporter, in relation to urea cycle in mice. Biochim Biophys Acta. 2002 Apr 12;1574(3):283-92. PMID: 11997094 [PubMed – indexed for MEDLINE] Sanz R, del Arco A, Ayuso C, Ramos C, Satrustegui J. Related Articles,Links Assignment of the calcium-binding mitochondrial carrier Aralar1 gene (SLC25A12) to human chromosome band 2q31 by in situ hybridization. Cytogenet Cell Genet. 2000;89(3-4):143-4. No abstract available. PMID: 10965105 [PubMed – indexed for MEDLINE] Crackower MA, Sinasac DS, Lee JR, Herbrick JA, Tsui LC, Scherer SW.Related Articles, Links Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24. Cytogenet Cell Genet. 1999;87(3-4):197-8. No abstract available. PMID: 10702666