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© Christelle Durand
Microscopie d'un neurone. Le marquage jaune montre les synapses.
Publication : BMC medical genetics

An investigation of ribosomal protein L10 gene in autism spectrum disorders

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in BMC medical genetics - 23 Jan 2009

Gong X, Delorme R, Fauchereau F, Durand CM, Chaste P, Betancur C, Goubran-Botros H, Nygren G, Anckarsäter H, Rastam M, Gillberg IC, Kopp S, Mouren-Simeoni MC, Gillberg C, Leboyer M, Bourgeron T

Link to Pubmed [PMID] – 19166581

BMC Med. Genet. 2009;10:7

Autism spectrum disorders (ASD) are severe neurodevelopmental disorders with the male:female ratio of 4:1, implying the contribution of X chromosome genetic factors to the susceptibility of ASD. The ribosomal protein L10 (RPL10) gene, located on chromosome Xq28, codes for a key protein in assembling large ribosomal subunit and protein synthesis. Two non-synonymous mutations of RPL10, L206M and H213Q, were identified in four boys with ASD. Moreover, functional studies of mutant RPL10 in yeast exhibited aberrant ribosomal profiles. These results provided a novel aspect of disease mechanisms for autism–aberrant processes of ribosome biosynthesis and translation. To confirm these initial findings, we re-sequenced RPL10 exons and quantified mRNA transcript level of RPL10 in our samples.

http://www.ncbi.nlm.nih.gov/pubmed/19166581