The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family

Gene
Ronghua LiMin-Xin Guan

Abstract

We report here the characterization of a three-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON). This Chinese family exhibited high penetrance and expressivity of visual impairment. The average age-of-onset was 19 years in this family. All male and 33% female matrilineal relatives in this Chinese family developed visual loss with a wide range of severity, ranging from blindness to normal vision. Sequence analysis of the complete mitochondrial DNA in this pedigree revealed the presence of the ND4 G11778A mutation and 40 other variants, belonging to the Asian haplogroup D4. The G11778A mutation is present at homoplasmy in matrilineal relatives of this Chinese family. Of other variants, the homoplasmic A15951G mutation is of special interest as it is located adjacent to 3' end, at conventional position 71 of tRNA(Thr). The adenine (A71) at this position of tRNA(Thr), highly conserved from bacteria to human mitochondria, has been implicated to be important for tRNA identity and pre-tRNA processing. In fact, the significant reduction of the steady-state levels in tRNA(Thr) was observed in cells carrying both the A15951G and G11778A mutations but not cells carrying only G11778A mutation. Thus, the A15951G...Continue Reading

References

Nov 1, 1992·American Heart Journal·T ObayashiH Toshima
Sep 15, 1991·Proceedings of the National Academy of Sciences of the United States of America·X D Bu, J I Rotter
Feb 14, 1991·Biochemical and Biophysical Research Communications·D R Johns, J Berman
Jun 15, 1991·American Journal of Ophthalmology·N J NewmanD C Wallace
Jan 1, 1973·Proceedings of the National Academy of Sciences of the United States of America·G Miller, M Lipman
Apr 9, 1981·Nature·S AndersonI G Young
Oct 1, 1981·Cell·M J BibbD A Clayton
May 1, 1993·Archives of Neurology·N J Newman
Feb 21, 1998·Nucleic Acids Research·A M KogelnikD C Wallace
Feb 21, 1998·Nucleic Acids Research·M SprinzlS Steinberg
Feb 12, 2002·American Journal of Human Genetics·Yong-Gang YaoYa-Ping Zhang
Mar 19, 2002·Journal of Medical Genetics·P Yu-Wai-ManP F Chinnery
Dec 5, 2002·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Neil HowellIwona Kubacka
May 9, 2003·American Journal of Human Genetics·Neil HowellCorinna Herrnstadt
Jul 25, 2003·Developments in Ophthalmology·Neil Howell
Aug 29, 2003·Cellular and Molecular Life Sciences : CMLS·C FlorentzM Sissler
Jan 2, 2004·Neuromuscular Disorders : NMD·Serenella Servidei
Dec 21, 2004·Nucleic Acids Research·Marty C BrandonDouglas C Wallace
Feb 15, 2005·Biochemical and Biophysical Research Communications·Wie-Yen YoungMin-Xin Guan
May 18, 2005·Biochemical and Biophysical Research Communications·Yaping QianMin-Xin Guan
Dec 21, 2005·Biochemical and Biophysical Research Communications·Xiangtian ZhouMin-Xin Guan

❮ Previous
Next ❯

Citations

Jul 1, 2008·Experimental & Molecular Medicine·Byung-Ok ChoiKi Wha Chung
Aug 10, 2010·Biochemical and Biophysical Research Communications·Juanjuan ZhangMin-Xin Guan
Sep 8, 2009·Biochemical and Biophysical Research Communications·Fuxin ZhaoMin-Xin Guan
Mar 28, 2009·Biochemical and Biophysical Research Communications·Min LiangMin-Xin Guan
Jun 30, 2006·Biochemical and Biophysical Research Communications·Yan-Hong SunMin-Xin Guan
May 23, 2015·Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis·Xi ZhangWenjie Huang
Jul 19, 2013·Journal of Child Neurology·Stéphanie PaquayIsabelle Maystadt
Jun 28, 2019·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Shuo YangBin Li
Jun 15, 2007·Molecular and Cellular Biochemistry·Poonam Kakkar, B K Singh
Jul 30, 2020·The Journal of Biological Chemistry·Yanchun JiMin-Xin Guan

❮ 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.