University of Adelaide's Dr Gecz, in collaboration with scientists from Katholieke Universiteit Leuven in Belgium, the Genetics of Learning Disability Service in NSW and Wellcome Trust Sanger Institute in Cambridge, has made a massive breakthrough in the genetics related to the development of intellectual disabilities.
They have been focussing on various gene mutations of a small section on the X-chromosome. The two specific gene replications, HUWE1 and HSD17B10, produce excess proteins. TP53 is a tumour supressing gene that regulates the regeneration of neuronal cells. HUWE1 regulates the TP53. These proteins appear to be one of the leading factors in triggering mental disability.
The study included 500 families who had previously been diagnosed with various intellectual disabilities linked with the X-chromosome. 1-3% of the world's population suffer from mental disabilities. 30% more of these cases are male rather than female.
Dr Gecz and his team of researchers next aim to predict the frequency of the gene mutations, to hopefully research possible interventions.
Bibliography:
Article: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1226209&tool=pmcentrez
http://www.physorg.com/news120988976.html
Image: http://services.epnet.com/GetImage.aspx/getImage.aspx?ImageIID=6863
Ashleigh Croucher - 42061207
