Sentence examples for mutations and mitochondrial from inspiring English sources

Importantly, a strong association has been found between skeletal muscle atrophy and the accumulation of mtDNA mutations and mitochondrial dysfunction in humans[6].

The genetic changes include deletions, point mutations and mitochondrial microsatellite instability (mtMSI), defined as the change in length in short base-repetitive sequences of mtDNA.

The traits characterized range from being tightly associated biochemically to the interacting mutations and mitochondrial function, such as mitochondrial translation and OXPHOS enzyme activity, to multifactorial behavioral traits that differ in their energy demands, such as flight and climbing.

Thus, it is likely that variation between human nuclear genomes will influence the effects and extent to which somatic mtDNA mutations and mitochondrial dysfunction play a role in tissue dysfunction and aging.

Disturbance in renal function was present in three patients, resulting from obstructive uropathy (two patients) and glomerulonephritis (one patient), with no reports of proximal renal tubulopathy, a common finding in children with RRM2B mutations and mitochondrial DNA depletion.

Indeed, somatic mitochondrial mutations and accumulated mitochondrial damage have been linked to AML development.

Using an animal model of progeroid aging that exhibits elevated mitochondrial DNA point mutations and systemic mitochondrial dysfunction, Safdar et al. reported 5 months of endurance exercise (15 m/min for 45 min, 3 times/week) mitigated mitochondrial DNA depletion and point mutations in the skeletal muscle, heart, and liver of mice [42].

Here, we generated mitochondrial disease patient-specific induced pluripotent stem cells (MiPSCs) that harbored a high proportion of m.3243A>G mtDNA mutations and caused mitochondrial encephalomyopathy and stroke-like episodes (MELAS).

There is a direct link between the presence of these mutations and a mitochondrial defect in these cells.

In this study we have systematically analyzed all aaRS mutations in cytoplasmic and mitochondrial enzyme copies.

The first reported adult-onset case was in a 30-year-old female with mitochondrial neurogastrointestinal encephalopathy who harboured compound heterozygous missense mutations in RRM2B and mitochondrial DNA depletion (Shaibani et al., 2009).