Sentence examples for mutations causing mitochondrial from inspiring English sources

MtDNA is present in tissues in multiple copies and the mtDNA mutations causing mitochondrial myopathies are frequently heteroplasmic, with a mixture of mutated and wild-type forms (2– 4).

Lightowlers, R. N., Taylor, R. W. & Turnbull, D. M. Mutations causing mitochondrial disease: What is new and what challenges remain?

Human mtDNA and nDNA mutations causing mitochondrial dysfunction are implicated in a broad spectrum of diseases affecting various tissues like brain, heart, liver, skeletal muscles, etc.

Exposure to rapamycin, starvation and mutations causing mitochondrial depolarization, swelling, fragmentation or biogenesis defects trigger a Uth1p-dependent process of micromitophagy in yeast cells cultured on lactate, a non-fermentable carbon source [ 4, 5].

Our observation that MFN2 mutations cause mitochondrial proliferation in blood adds weight to the novel disease mechanism reported by Rouzier et al. (2011).

Understanding how Twinkle mutations cause mitochondrial dysfunction and multiple mtDNA deletions in post-mitotic tissues in patients is one of the primary goals in studying the effects of Twinkle mutants using a combination of in vitro assays, cell culture and animal models.

However, no further possible disease causing mitochondrial mutations were identified in the remaining patients and no patients showed a significant reduction in mitochondrial copy number, thereby excluding mitochondrial DNA depletion.

Mitochondrial genome sequencing performed in all patients revealed disease causing mitochondrial DNA mutations in two patients (P1, P2, M group) [ 19].

Clinical syndromes caused by dysfunction of the nuclear maintenance genes can be broadly classified into two groups: (i) mutations that cause mitochondrial DNA depletion, which are at the most severe end of the phenotypic spectrum; and (ii) mutations that predispose to accumulation of multiple mitochondrial DNA deletions.

Oxidative stress also provokes mutations in mitochondrial and nuclear DNA, causing mitochondrial dysfunction and cell death (Pamplona and Barja, 2007).

In addition, missense mutations that cause mitochondrial HMGCS deficiency have been mapped onto the hHMGCS2 structure to rationalize the structural basis for the disease pathology.