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Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness

Lookup NU author(s): Professor Robert Taylor, Christine Hayes, Emeritus Professor Doug Turnbull


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A heteroplasmic T to C transition at nucleotide position 14709 in the mitochondrial tRNA glutamic acid (tRNA(Glu)) gene has previously been associated with maternally inherited diabetes and deafness (MIDD). To investigate the pathogenic mechanism of the T14709C mutation, we have constructed transmitochondrial cell lines by transferring fibroblasts mitochondria from a patient with the mutation into human cells lacking mitochondrial DNA (mtDNA) (rhodegrees cells). Clonal cybrid cell lines were obtained containing various levels of the heteroplasmic mutation, or exclusively mutated or wild-type mtDNA. Measurement of respiratory chain enzymatic activities failed to detect a difference between the homoplasmic mutant and homoplasmic wild-type cybrid cell lines. However., a subtle decrease in the steady-state levels of tRNA(Glu) transcripts in some mutant clones. Our studies suggest that the T14709C mutation is insufficient to lead impairment of mitochondrial function in homoplasmic osteosarcoma cybrid clones, and that we cannot exclude that the T14709C mutation affects mitochondrial function by a yet unidentified mechanism. (C) 2002 Elsevier Science B.V All rights reserved.

Publication metadata

Author(s): Hayes CM; Taylor RW; Turnbull DM; Perucca-Lostanlen D; Narbonne H; de Camaret BM; Saunieres A; Paquis-Flucklinger V; Vialettes B; Desnuelle C

Publication type: Article

Publication status: Published

Journal: Biochimica et Biophysica Acta: Molecular Basis of Disease

Year: 2002

Volume: 1588

Issue: 3

Pages: 210-216

ISSN (print): 0006-3002

ISSN (electronic):

Publisher: Elsevier BV


DOI: 10.1016/S0925-4439(02)00167-9


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