Feichtinger René G, Sperl Wolfgang, Bauer Johann W, Kofler Barbara
Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.
Exp Dermatol. 2014 Sep;23(9):607-14. doi: 10.1111/exd.12484.
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.
线粒体结构和功能异常会影响组织稳态，进而导致多种人类疾病和衰老。10%的原发性线粒体疾病患者会出现皮肤表现，可分为毛发异常、皮疹、色素沉着异常和肢端发绀。皮肤的几种疾病与线粒体能量代谢改变有关这一事实较少受到关注。这篇综述文章总结了线粒体病理对常见和罕见皮肤病的影响。我们探讨了一个有趣的现象，即多种皮肤疾病都存在原发性或继发性线粒体病理，并且多种分子缺陷可导致线粒体功能障碍。其中包括线粒体和核DNA编码的氧化磷酸化（OXPHOS）复合物亚基及装配因子的突变；参与线粒体连接、移动和塑形的中间丝蛋白的突变；以及线粒体DNA代谢、脂肪酸代谢和血红素合成的紊乱。因此，我们认为线粒体参与在皮肤病中是普遍现象而非个别情况。我们在文章结尾讨论了改善线粒体功能如何有益于老年皮肤，以及如何用作某些皮肤病的辅助治疗。考虑皮肤中的线粒体能量代谢为皮肤科医生和代谢疾病专家提供了一个新的视角。
