Modulating heteroplasmy

Trends in Genetics : TIG
Patrick F Chinnery

Abstract

Patients with mitochondrial DNA (mtDNA) disease usually harbor a mixture of mutant and wild-type mtDNA (a state termed heteroplasmy), and the clinical features of the disease depend on the percentage of mutant mtDNA (the "mutation load") in vulnerable tissues. Factors that modulate the mutation load are poorly understood, but recent work has started to unravel the mechanisms. In certain circumstances heteroplasmy might be regulated at the level of the individual mitochondrial genome.

References

May 1, 1997·Nature Genetics·J P JenuthE A Shoubridge
Jun 1, 1997·American Journal of Human Genetics·S K BidookiR N Lightowlers
Mar 21, 1998·Nature Genetics·D M Turnbull, R N Lightowlers
Mar 5, 1999·Science·D C Wallace
Aug 7, 1999·Lancet·P F Chinnery, D M Turnbull
Feb 16, 2000·Lancet·J V Leonard, A H Schapira
Aug 12, 2000·Annals of Neurology·P F ChinneryD M Turnbull
Nov 14, 2000·Trends in Genetics : TIG·P F ChinneryN Howell
Jan 3, 2001·American Journal of Human Genetics·D T BrownP F Chinnery
Feb 17, 2001·American Journal of Human Genetics·J L ElsonP F Chinnery
Oct 2, 2001·American Journal of Medical Genetics·S DiMauro, E A Schon

❮ Previous
Next ❯

Citations

Nov 7, 2002·Genes & Genetic Systems·Kazuaki KitagawaChiharu Nakamura
Aug 14, 2008·PloS One·Vincent DoubletIsabelle Marcadé
Dec 29, 2012·Genetics and Molecular Biology·Andreea DuduMarieta Costache
Aug 8, 2007·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·Roshan S Jahangir TafrechiAnton K Raap
Jan 1, 2010·Molecular Ecology Resources·Karl N Magnacca, Mark J F Brown
Jul 17, 2004·Endocrine Journal·Tatiana RogounovitchShunichi Yamashita
Jan 27, 2006·Radiation Research·Craig S WildingDouglass M Turnbull
Nov 30, 2010·Progress in Retinal and Eye Research·Patrick Yu-Wai-ManPatrick F Chinnery
Aug 27, 2013·Biochimie·Anne LombèsClaude Jardel
Sep 19, 2020·Genome Biology·Scott A LujanWilliam C Copeland
Jul 11, 2003·Biochimica Et Biophysica Acta·William Y Tsang, Bernard D Lemire

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.