Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A-->G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA

Journal of the Neurological Sciences
M G HannaA E Harding

Abstract

The mitochondrial DNA transfer RNA lysine A8344G mutation is commonly associated with the MERRF (myoclonus epilepsy with ragged red fibre) phenotype. The molecular pathogenesis of disease associated with this mutation is unclear. Theoretically, a mitochondrial tRNA mutation might affect transcription or translation, or both. We therefore studied these processes in cloned primary human myoblast cultures containing different proportions of mutant mtDNA. No abnormality of transcription was observed. However, there was a progressive decrease in mitochondrially encoded protein synthesis as the proportion of mutant mtDNA increased. Furthermore, there was evidence that subunits were differentially affected, based on selective reduction of cytochrome c oxidase subunits with relatively low proportions of mutant mtDNA.

References

Jan 1, 1976·Annual Review of Biochemistry·A Rich, U L RajBhandary
Jan 1, 1979·Methods in Enzymology·G Attardi, E Ching
Apr 1, 1992·Brain : a Journal of Neurology·S R HammansA E Harding
Jul 17, 1992·Biochimica Et Biophysica Acta·J M CooperA H Schapira
Dec 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·J HayashiI Nonaka
Dec 1, 1981·Experimental Cell Research·C F Brunk
Sep 1, 1981·Proceedings of the National Academy of Sciences of the United States of America·H M Blau, C Webster
Apr 9, 1981·Nature·S AndersonI G Young

❮ Previous
Next ❯

Citations

Dec 21, 2006·Pharmaceutical Research·Gerard G M D'SouzaVolkmar Weissig
Mar 25, 1998·Journal of the Neurological Sciences·M B Graeber, U Müller
May 30, 2001·Advanced Drug Delivery Reviews·T Pulkes, M G Hanna
Dec 3, 1999·European Journal of Clinical Investigation·A H Schapira, H R Cock
Jun 21, 2008·World Journal of Gastroenterology : WJG·Xue-Song ZhangMing-Ling Tao
Sep 22, 2010·International Journal of Radiation Biology·Sharon NugentJames E J Murphy
Apr 4, 2006·Human Reproduction Update·E C SpikingsJ C St John
Jul 23, 2011·Physiological Research·S A Dogan, A Trifunovic
Mar 17, 1999·Biochimica Et Biophysica Acta·J A Morgan-Hughes, M G Hanna

❮ 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.