Maria Andrea Desbats

TL;DR: It is found that sedentary but not active humans display an age-related decline in the mitochondrial protein, optic atrophy 1 (OPA1), that is associated with muscle loss and can trigger a cascade of signaling initiated at the ER that systemically affects general metabolism and aging.

TL;DR: It is shown that genetic ablation of the pro-fission protein DRP1 leads to accumulation of abnormal mitochondria that induce muscle atrophy by altering Ca2+ homeostasis and cellular stress responses.

TL;DR: Patients with both primary and secondary deficiencies benefit from high-dose oral supplementation with CoQ10, and treatment can stop the progression of both SRNS and encephalopathy, hence the critical importance of a prompt diagnosis.

TL;DR: CoQ(10) deficiency is unique among mitochondrial disorders since an effective treatment is available, and many patients respond to oral CoQ( 10) supplementation, and novel pharmacological approaches are currently being investigated.

TL;DR: It is of critical importance that physicians promptly recognize these disorders because most patients respond to oral administration of CoQ10, a clinically and genetically heterogeneous disorder.