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The inheritance of pathogenic mitochondrial DNA mutations

Lookup NU author(s): Dr Lynsey Cree, Dr David Samuels, Professor Patrick Chinnery

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Abstract

Mitochondrial DNA mutations cause disease in > 1 in 5000 of the population, and similar to 1 in 200 of the population are asymptomatic carriers of a pathogenic mtDNA mutation. Many patients with these pathogenic mtDNA mutations present with a progressive, disabling neurological syndrome that leads to major disability and premature death. There is currently no effective treatment for mitochondrial disorders, placing great emphasis on preventing the transmission of these diseases. An empiric approach can be used to guide genetic counseling for common mtDNA mutations, but many families transmit rare or unique molecular defects. There is therefore a pressing need to develop techniques to prevent transmission based on a solid understanding of the biological mechanisms. Several recent studies have cast new light on the genetics and cell biology of mtDNA inheritance, but these studies have also raised new controversies. Here we compare and contrast these findings and discuss their relevance for the transmission of human mtDNA diseases. (C) 2009 Elsevier B.V. All rights reserved.


Publication metadata

Author(s): Cree LM, Samuels DC, Chinnery PF

Publication type: Review

Publication status: Published

Journal: Biochimica et biophysica acta - Molecular basis of disease

Year: 2009

Volume: 1792

Issue: 12

Pages: 1097-1102

ISSN (print): 0925-4439

ISSN (electronic): 0006-3002

Publisher: ELSEVIER SCIENCE BV

URL: http://dx.doi.org/10.1016/j.bbadis.2009.03.002

DOI: 10.1016/j.bbadis.2009.03.002


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