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Case Reports
. 2014 Mar:15:34-9.
doi: 10.1016/j.mito.2014.03.010. Epub 2014 Mar 29.

Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity

Matthew J Fraidakis  1 , Claude Jardel  2 , Stéphane Allouche  3 , Isabelle Nelson  4 , Karine Auré  5 , Abdelhamid Slama  6 , Isabelle Lemière  7 , Jean Philippe Thenint  8 , Jean Baptiste Hamon  9 , Fabien Zagnoli  10 , Delphine Heron  11 , Frédéric Sedel  1 , Anne Lombès  12
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Free article
Case Reports

Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity

Matthew J Fraidakis et al. Mitochondrion. 2014 Mar.
Free article

Abstract

We describe four patients from three independent families with the m.1644G>A in the MT-TV gene, previously reported without demonstration of its deleterious impact. Very high mutation proportion co-segregated with cytochrome oxidase defect in single muscle fibers and respiratory defect in cybrids as shown by spectrophotometric assays and polarography. The mutation appeared to have a very steep threshold effect with asymptomatic life up to 70% mutation proportion, progressive encephalopathy above 80% and severe Leigh-like syndrome above 95% mutation. One patient did not fit within that frame but presented with characteristics suggesting the presence of an additional disease.

Keywords: Clinical diagnosis; Heteroplasmy; Mitochondrial DNA; Mitochondrial diseases.

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