Jana Buzkova

TL;DR: Measurement of FGF-21 concentrations in serum identified primary muscle-manifesting respiratory chain deficiencies in adults and children and might be feasible as a first-line diagnostic test for these disorders to reduce the need for muscle biopsy.

TL;DR: It is reported that mtDNA replication disorders caused by TWINKLE mutations-mitochondrial myopathy (MM) and infantile onset spinocerebellar ataxia (IOSCA)-remodel cellular dNTP pools in mice are reported and targets for metabolic therapy are offered.

TL;DR: In this paper, the authors examined subcutaneous adipose tissue (SAT) samples from healthy monozygotic twin pairs, 22.8-36.2 years of age, who were discordant (ΔBMI >3 kg/m2, mean length of discordance 6.3 ± 0.3 years, n = 26) and concordant for body weight, and assessed their detailed mitochondrial metabolic characteristics: mitochondrial-related transcriptomes with dysregulated pathways, mitochondrial DNA (mtDNA) amount, mtDNA-encoded transcripts, and mitochondrial oxidative phosph

TL;DR: All LBSL patients were compound heterozygotes, which suggests that DARS2 mutation homozygosity may be lethal or manifest as a different phenotype, and the authors show that despite identical mutations the clinical picture was quite variable in the patients.

TL;DR: Results indicate that nutrition can modify mitochondrial disease progression, dietary counseling should be part of MM care, short mAD is a tool to induce targeted RRF lysis, and mAD, a common weight‐loss method, may induce muscle damage in a population subgroup.