Obscurin variants and inherited cardiomyopathies

Biophysics Reviews
Steven Marston

Abstract

The inherited cardiomyopathies, hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and left ventricular non-compaction (LVNC), have been frequently associated with mutations in sarcomeric proteins. In recent years, advances in DNA sequencing technology has allowed the study of the giant proteins of the sarcomere, such as titin and nebulin. Obscurin has been somewhat neglected in these studies, largely because its functional role is far from clear, although there was an isolated report in 2007 of obscurin mutations associated with HCM. Recently, whole exome sequencing methodology (WES) has been used to address mutations in OBSCN, the gene for obscurin, and OBSCN variants were found to be relatively common in inherited cardiomyopathies. In different studies, 5 OBSCN unique variants have been found in a group of 30 end-stage failing hearts, 6 OBSCN unique variants in 74 HCM cases and 3 OBSCN unique variants in 10 LVNC patients. As yet, the number of known potentially disease-causing OBSCN variants is quite small. The reason for this is that mutations in the OBSCN gene have not been recognised as potentially disease-causing until recently, and were not included in large-scale genetic surveys. OBSCN mutations may be cau...Continue Reading

References

Mar 13, 2003·Molecular Biology of the Cell·Aikaterini Kontrogianni-KonstantopoulosRobert J Bloch
Aug 25, 2007·Biochemical and Biophysical Research Communications·Takuro ArimuraAkinori Kimura
May 1, 2009·Molecular Biology of the Cell·Maegen A AckermannAikaterini Kontrogianni-Konstantopoulos
Jul 9, 2009·Journal of Cell Science·Stephan LangeJu Chen
Jul 17, 2009·Molecular Biology of the Cell·Diana L Ford-SpeelmanRobert J Bloch
Feb 6, 2010·Proceedings of the National Academy of Sciences of the United States of America·Stefano PernigoMathias Gautel
Feb 16, 2010·Journal of the American College of Cardiology·Tianhong XuUNKNOWN Multidisciplinary Study of Right Ventricular Dysplasia Investigators
Dec 31, 2010·Current Opinion in Cell Biology·Mathias Gautel
Feb 9, 2013·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Li-Yen R Hu, Aikaterini Kontrogianni-Konstantopoulos
Mar 21, 2013·IUBMB Life·Nicole A PerryAikaterini Kontrogianni-Konstantopoulos
Aug 29, 2014·European Heart Journal·Jan HaasBenjamin Meder
Sep 11, 2014·Human Mutation·Vilma-Lotta LehtokariCarina Wallgren-Pettersson
Jan 23, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ahmed A AlfaresHeidi L Rehm
Jan 7, 2016·The New England Journal of Medicine·James S WareUNKNOWN IMAC-2 and IPAC Investigators
Aug 18, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Roddy WalshHugh Watkins
Aug 18, 2016·The New England Journal of Medicine·Arjun K ManraiIsaac S Kohane
Oct 28, 2016·American Journal of Physiology. Cell Physiology·D RandazzoV Sorrentino
Nov 20, 2016·Journal of the American College of Cardiology·Teisha J RowlandLuisa Mestroni

❮ Previous
Next ❯

Citations

Aug 14, 2018·Pflügers Archiv : European journal of physiology·Alyssa Grogan, Aikaterini Kontrogianni-Konstantopoulos
Aug 2, 2017·Expert Opinion on Therapeutic Targets·Davide RandazzoVincenzo Sorrentino
Sep 12, 2020·Cell Systems·Niek VerweijPim van der Harst
Jul 10, 2021·Proteomics. Clinical Applications·Richard D SembaAlka Mahale

❮ Previous
Next ❯

Methods Mentioned

BETA
exome sequencing

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.

Related Papers

Revista Portuguesa De Cardiologia : Orgão Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology
Ricardo FariaIlídio de Jesus
QJM : Monthly Journal of the Association of Physicians
C McCullochA Bridges
© 2022 Meta ULC. All rights reserved