Premium
Maternally inherited diabetes and deafness (MIDD): A distinct subtype of diabetes associated with a mitochondrial tRNA Leu(UUR) gene point mutation
Author(s) -
van den Ouweland J. M. W.,
Lemkes H. H. P. J.,
Gerbitz K.D.,
Maassen J. A.
Publication year - 1995
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880181425
Subject(s) - mitochondrial dna , point mutation , genetics , mutation , gene , biology , diabetes mellitus , mitochondrion , endocrinology
We have recently described a mitochondrial DNA (mtDNA) point mutation at np 3243 in the tRNA Leu(UUR) gene in a large Dutch pedigree with maternally inherited diabetes mellitus and deafness (MIDD) illustrating the importance of mitochondrial function in maintenance of a proper glucose homeostasis. In this review we will focus on the prevalence of the mtDNA mutation at np 3243 in diabetic populations, as well as postulate some working models for its pathogenicity. © 1995 John Wiley & Sons, Inc.