The genetic contribution is one of the most notable factors that play a main role in the risk of OA. Despite the genetics of this disease is complex and the finding of risk-related genes has been very challenging, evidence for genetic predisposition has been reported. Besides, in the last years recent evidences indicate that the mitochondrion is implicated in OA. In this context, the mtDNA hapl...

Pearson syndrome. Clinical spectrum of mitochondrial disorders is broad, so consensus diagnostic criteria for mitochondrial disorders have been proposed for children and adults. Sequence map of human mitochondrial genome with its normal and patho­ genic variants is publicly available. In this review, we will discuss genetic features of mitochondrial myopathies as well as their key findings. Rep...

Mitochondria are crucial for many cellular functions. In this issue of Cell Reports, studies from Lanning et al. and Wolf and Mootha describe RNAi approaches to screening the mitochondrial proteome. Unexpectedly, they uncover key roles for two poorly characterized mitochondrial proteins: AK4 and FASTKD4. These studies provide examples of the power of forward genetic screens, even when screening...