title: Mutation in the calcium-binding domain of the mitochondrial glycerophosphate dehydrogenase gene in a family of diabetic subjects.
abstract: The Ca(2+)-sensitive and mitochondrial enzyme FAD-linked glycerophosphate dehydrogenase (m-GDH) represents an essential component of the pancreatic B-cell glucose-sensing device. This report deals with the first identified case of mutation in the calcium-binding domain of the m-GDH gene in a patient with type-2 diabetes and his glucose-intolerant half sister. Single strand conformation polymorphism analysis indeed revealed an abnormal mobility of the 32P-labelled polymerase chain reaction product in these two subjects. The corresponding base pair mutations and amino acid changes were documented. In the diabetic proband, the relative extent of the Ca(2+)-induced activation of m-GDH in CD3+ T-lymphocytes was lower than in his brother with a normal m-GDH gene sequence.
authors.affiliation: Diabetes Unit, Hospital Clinic, Barcelona University, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Novials
authors.forename: J
authors.initials: J
authors.lastname: Vidal
authors.forename: C
authors.initials: C
authors.lastname: Franco
authors.forename: F
authors.initials: F
authors.lastname: Ribera
authors.forename: A
authors.initials: A
authors.lastname: Sener
authors.forename: W J
authors.initials: WJ
authors.lastname: Malaisse
authors.forename: R
authors.initials: R
authors.lastname: Gomis
mesh_terms: D001483:Base Sequence; D001665:Binding Sites; D002118:Calcium / Q000378:metabolism*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D018149:Glucose Intolerance; D005993:Glycerolphosphate Dehydrogenase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000201:enzymology*; D008969:Molecular Sequence Data; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D005993:Glycerolphosphate Dehydrogenase; D002118:Calcium