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Mitochondria and skin disease

Lookup NU author(s): Professor Mark Birch-MachinORCiD


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In addition to the 3 billion base pair nuclear genome, each human cell contains thousands of copies of a small, 16.5 kb circular molecule of double stranded DNA: mitochondria have their own DNA (mtDNA) which generally accounts for only 1% of the total cellular nucleic acid content. Therefore why should anyone, particularly in the field of dermatology, have an interest in this cytoplasmic organelle and its DNA? This review will address this question; there are three principle reasons: (i) mitochondria have a crucial role both in energy production and the viability of the cell and recently mitochondria have been implicated in programmed cell death (apoptosis). Although much smaller than the nuclear genome, mtDNA is equally important. MtDNA defects and the resulting mitochondrial dysfunction is an important contributor to human degenerative diseases, ageing and cancer; (ii) mtDNA is a significant target of ultraviolet radiation and current work shows that it may be useful as a candidate biomarker of cumulative exposure in skin; and (iii) there is a broad spectrum of skin manifestations that are signs of mitochondrial disorders; in addition, the frequency of skin findings in these syndromes is probably under-reported.

Publication metadata

Author(s): Birch-Machin MA

Publication type: Review

Publication status: Published

Journal: Clinical and Experimental Dermatology

Year: 2000

Volume: 25

Issue: 2

Pages: 141-146

ISSN (print): 0307-6938

ISSN (electronic): 1365-2230


DOI: 10.1046/j.1365-2230.2000.00605.x

PubMed id: 10733641