Lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy?

Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene

“…The amount of lipid accumulation causing remarkable vacuolisation in RRF is an unusual finding; however, other types of mitochondrial disorders have been reported in association with lipid storage owing to "secondary" carnitine deficiency, [18][19][20] and this has also been observed in our patient (free carnitine concentration in muscle was 25% of normal). Defects of oxidative phosphorylation downstream of complexes I and II inhibit β oxidation owing to decreased electron transfer from acyl-CoA dehydrogenases to ubiquinone and the intermediates of acyl-CoA β oxidation are released from mitochondria as carnitine esters.…”

Proteomic analysis of mitochondrial proteins of basal and lipolytically (isoproterenol and TNF‐α)‐stimulated adipocytes

“…Mitochondria play a critical role in the process of energy expenditure, as they are the cellular furnaces where fuels (derived from fatty acids and glucose) are oxidized and energy is either stored in the energy phosphate bonds of ATP or is released as heat [Spiegelman and Flier, 2001]. Mitochondrial dysfunction can lead to diseases characterized by lipid metabolism disorders and pathological triglyceride accumulation in several cell types [Klopstock et al, 1997; Kakuda, 2000; Munoz‐Malaga et al, 2000]. In patients with insulin resistance and type 2 diabetes, mitochondrial metabolism and ATP synthesis are reduced in concert with a reduction of key factors regulating mitochondrial biogenesis [Petersen et al, 2004; Bogacka et al, 2005].…”

Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study

“…Previous case studies that have described patients with lipomas carrying the m.8344A>G point mutation have found that lipomas seem to develop over time , and patients have presented with lipomas at middle age like the uncle in this study. In contrast, the proband presented with lipomas in her twenties.…”