Laboratory of Molecular Gerontology, National Institute on Aging, Baltimore, Maryland, USA.
Laboratory of Molecular Gerontology, National Institute on Aging, Baltimore, Maryland, USA.
J Invest Dermatol. 2021 Apr;141(4S):968-975. doi: 10.1016/j.jid.2020.10.019. Epub 2021 Jan 19.
Defects in DNA repair pathways and alterations of mitochondrial energy metabolism have been reported in multiple skin disorders. More than 10% of patients with primary mitochondrial dysfunction exhibit dermatological features including rashes and hair and pigmentation abnormalities. Accumulation of oxidative DNA damage and dysfunctional mitochondria affect cellular homeostasis leading to increased apoptosis. Emerging evidence demonstrates that genetic disorders of premature aging that alter DNA repair pathways and cause mitochondrial dysfunction, such as Rothmund-Thomson syndrome, Werner syndrome, and Cockayne syndrome, also exhibit skin disease. This article summarizes recent advances in the research pertaining to these syndromes and molecular mechanisms underlying their skin pathologies.
多种皮肤疾病中均存在 DNA 修复途径缺陷和线粒体能量代谢改变。超过 10%的原发性线粒体功能障碍患者表现出皮疹和毛发及色素异常等皮肤特征。氧化 DNA 损伤和功能失调的线粒体积累会影响细胞内稳态，导致细胞凋亡增加。新出现的证据表明，改变 DNA 修复途径并导致线粒体功能障碍的过早衰老遗传疾病，如 Rothmund-Thomson 综合征、 Werner 综合征和 Cockayne 综合征，也表现出皮肤疾病。本文总结了与这些综合征相关的研究进展以及其皮肤病理学的分子机制。
