Anu Suomalainen

TL;DR: In this paper, a solid-phase minisequencing method based on competetive PCR is proposed for DNA quantification, which can be applied to determination of allele frequencies in pooled DNA samples, of mitochondrial heteroplasmy, of gene copy numbers and to forensic DNA analysis.

TL;DR: It is shown that stable iPSC lines can be generated from human myoblasts at efficiency similar to that of fibroblasts when appropriate media is used, and the efficiency of the feeder-free iPSCs generation can be significantly improved by inhibitors of histone deacetylase (sodium butyrate) and TGF-β signaling.

TL;DR: Patients with a variety of molecular lesions in mtDNA, including sporadic, clonal deletions, maternally inherited point mutations, autosomally transmitted mtDNA depletion and autosomal dominant multiple deletions showed no differences in POLG trinucleotide repeat-length distribution from controls, ruling out POLG repeat expansion as a common pathogenic mechanism in disorders characterised by mitochondrial genome instability.

TL;DR: This work reviews strategies that have been tested or that can be proposed to be feasible as intervention for mitochondrial disease and aims to slow down the disease progression or are palliative in nature.

TL;DR: Although no breakthroughs in the therapeutic trials on the devastating mitochondrial diseases have so far been achieved, detection of mtDNA mutations offers an accurate diagnosis and is a prerequisite for genetic counselling, being now accessible to most clinicians.