Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Pathogenic mitochondrial tRNA mutations - Which mutations are inherited and why?
Human Mutation, Volume 30, No. 11, Year 2009
Notification
URL copied to clipboard!
Description
Mitochondrial transfer RNA (mt-tRNA) mutations are the commonest mitochondrial (mtDNA) mutations to cause human disease. The majority of mt-tRNA mutations are heteroplasmic and while some exhibit maternal transmission within families, many others are only seen as sporadic mutations. Using the available clinical, biochemical and genetic data from published pathogenic mt-tRNA mutations, we have explored several different factors thought to influence the transmission of mt-tRNA mutations. Our data show that the most important factor in predicting whether a mutation is transmitted to offspring is whether the mt-tRNA mutation is selected against in a rapidly replicating tissue such as blood. This suggests that those mt-tRNA mutations which exert a major phenotype in dividing cells are unlikely to be inherited. This is entirely compatible with recent observations on the mitochondrial genetic bottleneck in early development and has important implications for families with mt-tRNA disease. © 2009 Wiley-Liss, Inc.
Authors & Co-Authors
Elson, Joanna L.
United Kingdom, Newcastle
Newcastle University
Blakely, Emma L.
United Kingdom, Newcastle
Newcastle University
McFarland, Robert M.
United Kingdom, Newcastle
Newcastle University
Taylor, Robert William
United Kingdom, Newcastle
Newcastle University
Turnbull, Douglass M.
United Kingdom, Newcastle
Newcastle University
Statistics
Citations: 43
Authors: 5
Affiliations: 1
Identifiers
Doi:
10.1002/humu.21113
ISSN:
10597794
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health