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Human Molecular Genetics, 1999, Vol. 8, No. 10 1833-1838
© 1999 Oxford University Press

Review

Breakthroughs in molecular andcellular mechanisms underlying X-linked mental retardation

Jamel Chellya

INSERM U129–ICGM, CHU Cochin, 24 Rue du FaubourgSaint-Jacques, 75014 Paris, France

ABSTRACT

Although genetic causes of X-linked mental retardation(XLMR) are heterogenous and complex, recent concerted actions betweenphysicians and biologists have allowed some major difficulties tobe overcome and led to the identification of an increasing numberof genes involved in these conditions. Indeed, over the past 2 yearssignificant progress has been made in understanding the molecularbasis underlying not only XLMR, where there are distinguishing phenotypicor genetic markers (syndromal forms of XLMR), but also non-specific(or idiopathic) mental retardation (MRX). Recent breakthroughs haveshown that genes responsible for these latter conditions encodefor proteins involved in signalling pathways which regulate cytoskeleton organization,synaptic vesicle transport and, maybe, other cellular functions.Also, they suggest a pro­vocative picture that conceptualizesMRX as disorders resulting from a dysfunctioning of genes requiredfor processes such as the remodelling, establishment and stabilizationof connections between neuronal cells. Such processes are crucialfor the development of intellectual and cognitive functions. Asthese functions begin to evolve mainly in post-natal stages throughcontact with diverse stimuli and environments, a potential therapeuticapproach would be the development of drugs that target cellularsignalling pathways shown to be implicated in MRX.

FOOTNOTES

a Tel: +331 44 41 24 10; Fax: +33 1 44 41 24 21; Email: chelly{at}infobiogen.fr


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