Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.

Molecular Genetics and Metabolism
Xiangtian ZhouMin-Xin Guan

Abstract

We report here the clinical, genetics and molecular characterization of a five-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON). Strikingly, this family exhibits very high penetrance and occurrence of optic neuropathy. In particular, 25 (10 males/15 females) of 30 matrilineal relatives exhibited the variable severity, ranging from profound to mild of visual impairment. This penetrance of optic neuropathy in this Chinese family is much higher than those in many families with LHON worldwide. The age-at-onset for visual impairment in matrilineal relatives in this Chinese family varied from 7 to 24years old, with the average of 15 years old. Furthermore, the ratio between affected male and female matrilineal relatives is 1:1.5 in the Chinese family. This observation is in contrast with the typical features in LHON pedigrees that there was predominance of affected males in LHON in many families from different ethnic origins. Molecular analysis of mitochondrial genome identified the known ND4 G11778A mutation and 51 variants, belonging to Asian haplogroup C4a1. The absence of other known secondary LHON-associated and functionally significant mtDNA mutations in this Chinese family suggested that mitochondr...Continue Reading

References

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
Oct 1, 1981·Cell·M J BibbD A Clayton
Jul 25, 2003·Developments in Ophthalmology·Neil Howell
Jan 2, 2004·Neuromuscular Disorders : NMD·Serenella Servidei
Oct 7, 2004·Genome Research·Masashi TanakaHidetoshi Shimodaira
Dec 21, 2004·Nucleic Acids Research·Marty C BrandonDouglas C Wallace
May 18, 2005·Biochemical and Biophysical Research Communications·Yaping QianMin-Xin Guan
Dec 29, 2005·American Journal of Human Genetics·Gavin HudsonPatrick F Chinnery
Apr 5, 2007·European Journal of Human Genetics : EJHG·Anu PuomilaEeva Nikoskelainen
Mar 26, 2008·Ophthalmic Genetics·Suma P ShankarEdwin M Stone
Nov 13, 2008·Journal of Medical Genetics·P Yu-Wai-ManP F Chinnery
Mar 10, 2009·Biochimica Et Biophysica Acta·Valerio CarelliAlfredo A Sadun

❮ Previous
Next ❯

Citations

Dec 6, 2019·Frontiers in Molecular Biosciences·Dayan SunJiucun Wang
Jun 10, 2020·The Journal of Clinical Investigation·Jialing YuMin-Xin Guan
Sep 27, 2013·Herz·S Zarrouk-MahjoubR Boussaada
Feb 26, 2013·Clinical & Experimental Ophthalmology·Margaret L PfeifferAndrew G Lee
Sep 25, 2020·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Nancy J NewmanPatrick Yu-Wai-Man
Jul 29, 2019·Journal of the Neurological Sciences·Shalini ManiM V Kranthi Kumar
Jun 23, 2021·Investigative Ophthalmology & Visual Science·Xiaofen JinMin-Xin Guan
Aug 10, 2010·Biochemical and Biophysical Research Communications·Juanjuan ZhangMin-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.