title: Mitochondrial dysfunction: a neglected component of skin diseases.
abstract: Aberrant mitochondrial structure and function influence tissue homeostasis and thereby contribute to multiple human disorders and ageing. Ten per cent of patients with primary mitochondrial disorders present skin manifestations that can be categorized into hair abnormalities, rashes, pigmentation abnormalities and acrocyanosis. Less attention has been paid to the fact that several disorders of the skin are linked to alterations of mitochondrial energy metabolism. This review article summarizes the contribution of mitochondrial pathology to both common and rare skin diseases. We explore the intriguing observation that a wide array of skin disorders presents with primary or secondary mitochondrial pathology and that a variety of molecular defects can cause dysfunctional mitochondria. Among them are mutations in mitochondrial- and nuclear DNA-encoded subunits and assembly factors of oxidative phosphorylation (OXPHOS) complexes; mutations in intermediate filament proteins involved in linking, moving and shaping of mitochondria; and disorders of mitochondrial DNA metabolism, fatty acid metabolism and heme synthesis. Thus, we assume that mitochondrial involvement is the rule rather than the exception in skin diseases. We conclude the article by discussing how improving mitochondrial function can be beneficial for aged skin and can be used as an adjunct therapy for certain skin disorders. Consideration of mitochondrial energy metabolism in the skin creates a new perspective for both dermatologists and experts in metabolic disease.
authors: Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.
authors: René G
authors: RG
authors: Feichtinger
authors: Wolfgang
authors: W
authors: Sperl
authors: Johann W
authors: JW
authors: Bauer
authors: Barbara
authors: B
authors: Kofler
mesh_terms: D001327:Autoimmune Diseases / Q000209:etiology / Q000235:genetics / Q000378:metabolism; D003057:Cockayne Syndrome / Q000209:etiology / Q000235:genetics / Q000378:metabolism; D004260:DNA Repair; D004272:DNA, Mitochondrial / Q000235:genetics / Q000378:metabolism; D003854:Deoxyribonucleotides / Q000378:metabolism; D004734:Energy Metabolism; D005227:Fatty Acids / Q000378:metabolism; D050259:Genes, Mitochondrial; D006418:Heme / Q000096:biosynthesis; D006801:Humans; D007382:Intermediate Filaments / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D007506:Iron-Sulfur Proteins / Q000096:biosynthesis; D020935:MAP Kinase Signaling System; D008928:Mitochondria / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D028361:Mitochondrial Diseases / Q000150:complications* / Q000235:genetics / Q000378:metabolism*; D024101:Mitochondrial Proteins / Q000235:genetics; D009154:Mutation; D010085:Oxidative Phosphorylation; D015595:Skin Aging / Q000235:genetics / Q000502:physiology; D012871:Skin Diseases / Q000209:etiology* / Q000235:genetics / Q000378:metabolism*; D012878:Skin Neoplasms / Q000209:etiology / Q000235:genetics / Q000378:metabolism
chemical_list: D004272:DNA, Mitochondrial; D003854:Deoxyribonucleotides; D005227:Fatty Acids; D007506:Iron-Sulfur Proteins; D024101:Mitochondrial Proteins; D006418:Heme
keywords: OXPHOS; energy metabolism; mitochondria; respiratory chain; skin