title: For want of a nail. ramifications of a single gene deletion, dystrophin, in the brain of the mouse.
abstract: Lack of expression of a single gene, dystrophin, causes the severe, progressive muscle wasting and mental deficits characteristic of Duchenne muscular dystrophy. In this work, we investigated the impact of dystrophin deletion on expression of other genes in the brain cortex, hippocampus and cerebellum using the murine homologue, the mdx mouse, and RT-PCR. Expression of the brain glucose transporters GLUT1 and GLUT2 was found to be decreased, as were some subunits of the GABAA and nicotinic acetylcholine receptors. Genes involved in bioenergetic homeostasis, such as the mitochondrial creatine kinase and the gamma subunit of ATP synthase were also found to be abnormally expressed, while expression of the structural proteins beta-dystrobrevin and rapsyn was also significantly affected. We relate these findings to known functional deficits and discuss the possible mechanisms behind the altered gene expression.
authors.affiliation: Discipline of Biochemistry, School of Molecular and Microbial Biosciences, The University of Sydney, NSW, 2006, Australia.
authors.forename: Trent
authors.initials: T
authors.lastname: Wallis
authors.forename: William A
authors.initials: WA
authors.lastname: Bubb
authors.forename: James A
authors.initials: JA
authors.lastname: McQuillan
authors.forename: Vladimir J
authors.initials: VJ
authors.lastname: Balcar
authors.forename: Caroline
authors.initials: C
authors.lastname: Rae
mesh_terms: D000375:Aging / Q000502:physiology; D000818:Animals; D001921:Brain / Q000378:metabolism / Q000502:physiology*; D002250:Carbon Radioisotopes; D003847:Deoxyglucose / Q000378:metabolism; D016189:Dystrophin / Q000235:genetics / Q000502:physiology*; D017353:Gene Deletion; D015870:Gene Expression / Q000502:physiology*; D005796:Genes / Q000502:physiology; D005947:Glucose / Q000378:metabolism; D051379:Mice; D008810:Mice, Inbred C57BL; D018101:Mice, Inbred mdx; D009004:Monosaccharide Transport Proteins / Q000378:metabolism; D017981:Receptors, Neurotransmitter / Q000378:metabolism
chemical_list: D002250:Carbon Radioisotopes; D016189:Dystrophin; D009004:Monosaccharide Transport Proteins; D017981:Receptors, Neurotransmitter; D003847:Deoxyglucose; D005947:Glucose