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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation
Human Genetics, Volume 124, No. 6, Year 2009
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Description
We have investigated the chromosome abnormalities in a female patient exhibiting mild nonsyndromic mental retardation. The patient carries a de novo balanced reciprocal translocation 46,XX,t(2;7)(q24.1;q36.1). Physical mapping of the breakpoints by fluorescent in situ hybridization experiments revealed the disruption of the GPD2 gene at the 2q24.1 region. This gene encodes the mitochondrial glycerophosphate dehydrogenase (mGPDH), which is located on the outer surface of the inner mitochondrial membrane, and catalyzes the unidirectional conversion of glycerol-3-phosphate (G3P) to dihydroxyacetone phosphate with concomitant reduction of the enzyme-bound FAD. Molecular and functional studies showed approximately a twofold decrease of GPD2 transcript level as well as decreased activity of the coded mGPDH protein in lymphoblastoid cell lines of the patient compared to controls. Bioinformatics analysis allowed us to confirm the existence of a novel transcript of the GPD2 gene, designated GPD2 c, which is directly disrupted by the 2q breakpoint. To validate GPD2 as a new candidate gene for mental retardation, we performed mutation screening of the GPD2 gene in 100 mentally retarded patients; however, no mutations have been identified. Nevertheless, our results propose that a functional defect of the mGPDH protein could be associated with mental retardation, suggesting that GPD2 gene could be involved in mental retardation in some cases. © Springer-Verlag 2008.
Authors & Co-Authors
Daoud, Hussein
France, Tours
Université de Tours
Gruchy, Nicolas
France, Caen
Chu de Caen Normandie
Constans, Jean Marc
France, Caen
Chu de Caen Normandie
France, Caen
Université de Caen Normandie
Moussaoui, Edgar
France, Caen
Chu de Caen Normandie
Saumureau, Simone
France, Cherbourg-octeville
Centre Hospitalier Louis Pasteur
Bayou, Nadia
Tunisia, Tunis
Université de Tunis el Manar, Hôpital Charles Nicolle
Amy, Maïté
France, Tours
Université de Tours
Védrine, Sylviane Marouillat
France, Tours
Université de Tours
Vu, Phi Yen
France, Talence
Centre Hospitalier Universitaire de Bordeaux
Röig, Agnès
France, Paris
Inserm
Laumonnier, Frédéric
France, Tours
Université de Tours
Vourc'H, Patrick
France, Tours
Université de Tours
France, Tours
Centre Hospitalier Regional et Universitaire de Tours
Andres, C. R.
France, Tours
Université de Tours
France, Tours
Centre Hospitalier Regional et Universitaire de Tours
Leporrier, Nathalie
France, Caen
Chu de Caen Normandie
Briault, Sylvain
France, Tours
Université de Tours
France, Orleans
Chr D'orléans
Statistics
Citations: 23
Authors: 15
Affiliations: 9
Identifiers
Doi:
10.1007/s00439-008-0588-3
ISSN:
03406717
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Participants Gender
Female