The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy

Journal of Medical Genetics
Zhong LiuQingfeng Yan

Abstract

Hypertrophic cardiomyopathy (HCM) is a primary disorder characterised by asymmetric thickening of septum and left ventricular wall, with a prevalence of 0.2% in the general population. To describe a novel mitochondrial DNA mutation and its association with the pathogenesis of HCM. All maternal members of a Chinese family with maternally transmitted HCM exhibited variable severity and age at onset, and were implanted permanent pacemakers due to complete atrioventricular block (AVB). Nuclear gene screening (MYH7, MYBPC3, TNNT2 and TNNI3) was performed, and no potential pathogenic mutation was identified. Mitochondrial DNA sequencing analysis identified a novel homoplasmic 16S rRNA 2336T>C mutation. This mutation was exclusively present in maternal members and absent in non-maternal members. Conservation index by comparison to 16 other vertebrates was 94.1%. This mutation disturbs the 2336U-A2438 base pair in the stem-loop structure of 16S rRNA domain III, which is involved in the assembly of mitochondrial ribosome. Oxygen consumption rate of the lymphoblastoid cells carrying 2336T>C mutation had decreased by 37% compared with controls. A reduction in mitochondrial ATP synthesis and an increase in reactive oxidative species produc...Continue Reading

References

Jan 28, 1989·Lancet·M O CoupeW McKenna
Sep 1, 1989·Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography·N B SchillerI Schnittger
Jan 1, 1973·Proceedings of the National Academy of Sciences of the United States of America·G Miller, M Lipman
Jul 17, 1996·JAMA : the Journal of the American Medical Association·B J MaronF O Mueller
Nov 1, 1996·Journal of the American College of Cardiology·H J Levine, W H Gaasch
Feb 12, 1998·Nucleic Acids Research·P De Rijk, R De Wachter
Nov 12, 1998·The American Journal of Pathology·E ArbustiniM Viganò
Jan 10, 2002·Developmental Cell·Luca ScorranoStanley J Korsmeyer
Apr 25, 2003·Trends in Genetics : TIG·Houman AshrafianHugh Watkins
Jun 25, 2005·Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association·Y HattoriM Koyama
Mar 3, 2006·Journal of Molecular Biology·Jason A MearsStephen C Harvey
Sep 2, 2006·Human Mutation·Eduardo Ruiz-Pesini, Douglas C Wallace
Dec 13, 2006·American Journal of Physiology. Heart and Circulatory Physiology·Marina R BergmanDavid H Lovett
Apr 21, 2007·International Journal of Cardiology·Ajay BahlKewal K Talwar
Apr 12, 2008·The New England Journal of Medicine·Hiroyuki MoritaChristine E Seidman
Mar 31, 2010·Journal of cardiology·Takayoshi HirotaYoshinori L Doi
Jun 4, 2011·Journal of the American Society of Nephrology : JASN·Ting ZhouMiguel A Esteban
Jun 21, 2011·Yi chuan = Hereditas·Yan-Rui SongQing-Feng Yan
Jul 26, 2011·Human Mutation·Louise GalmicheAgnès Rötig
Aug 30, 2011·Free Radical Biology & Medicine·Brian P DrankaVictor M Darley-Usmar
Oct 1, 2011·Molecular and Cellular Biochemistry·Murali D BashyamCalambur Narasimhan
Nov 25, 2011·Circulation Journal : Official Journal of the Japanese Circulation Society·Haruna OtsukaAkinori Kimura
Feb 13, 2013·Stem Cells·Anne B C CherrySuneet Agarwal
Jun 13, 2013·Trends in Genetics : TIG·G Jane FarrarSophia Millington-Ward

❮ Previous
Next ❯

Citations

Dec 4, 2014·International Journal of Cardiology·Josef Finsterer, Sonam Kothari
Nov 1, 2015·The Canadian Journal of Cardiology·Catherine Brunel-GuittonFlorin Sasarman
Jun 2, 2015·Cell Cycle·Dasmanthie De SilvaAntoni Barrientos
Oct 4, 2014·Science·Alan BrownV Ramakrishnan
May 8, 2015·BioMed Research International·Jian YangShen-Jiang Hu
Aug 10, 2016·Frontiers in Cardiovascular Medicine·Ayman W El-Hattab, Fernando Scaglia
Feb 9, 2017·Current Opinion in Cardiology·Alexander W Bray, Scott W Ballinger
Sep 14, 2019·Antioxidants·Anne Hahn, Steven Zuryn
Jul 31, 2020·Heart Failure Reviews·Mohaddeseh BehjatiMajid Nejati
Oct 18, 2020·International Journal of Molecular Sciences·Michael Webb, Dionisia P Sideris
Dec 15, 2020·FEBS Letters·Alberto FerrariAntoni Barrientos
Feb 9, 2021·Molecular Genetics & Genomic Medicine·Yanlan FangLi Liang
Nov 30, 2019·Trends in Biochemical Sciences·Florent Waltz, Philippe Giegé
May 1, 2021·International Journal of Molecular Sciences·Maria Isabel G Lopez SanchezJoanna Rorbach
Jun 3, 2021·International Journal of Molecular Sciences·Cristina MazzaccaraGiulia Frisso
Dec 4, 2021·Frontiers in Cardiovascular Medicine·Qingshan TianZhenzhong Zheng

❮ Previous
Next ❯

Methods Mentioned

BETA
electron microscopy
PCR
electrophoresis
Assay

Software Mentioned

RnaViz

Related Concepts

Related Feeds

Cardiomyopathy

Cardiomyopathy is a disease of the heart muscle, that can lead to muscular or electrical dysfunction of the heart. It is often an irreversible disease that is associated with a poor prognosis. There are different causes and classifications of cardiomyopathies. Here are the latest discoveries pertaining to this disease.