Interactions among ryanodine receptor isotypes contribute to muscle fiber type development and function

Disease Models & Mechanisms
Alexis A ChagovetzDavid J Grunwald

Abstract

Mutations affecting ryanodine receptor (RyR) calcium release channels commonly underlie congenital myopathies. Although these channels are known principally for their essential roles in muscle contractility, mutations in the human RYR1 gene result in a broad spectrum of phenotypes, including muscle weakness, altered proportions of fiber types, anomalous muscle fibers with cores or centrally placed nuclei, and dysmorphic craniofacial features. Currently, it is unknown which phenotypes directly reflect requirements for RyRs and which result secondarily to aberrant muscle function. To identify biological processes requiring RyR function, skeletal muscle development was analyzed in zebrafish embryos harboring protein-null mutations. RyR channels contribute to both muscle fiber development and function. Loss of some RyRs had modest effects, altering muscle fiber-type specification in the embryo without compromising viability. In addition, each RyR-encoding gene contributed to normal swimming behavior and muscle function. The RyR channels do not function in a simple additive manner. For example, although isoform RyR1a is sufficient for muscle contraction in the absence of RyR1b, RyR1a normally attenuates the activity of the co-expres...Continue Reading

References

Jan 1, 1979·Physiological Reviews·D M Fambrough
Nov 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·A R MarksB Nadal-Ginard
Jan 1, 1974·Developmental Psychobiology·C B KimmelR O Kimmel
Jul 1, 1995·Developmental Dynamics : an Official Publication of the American Association of Anatomists·C B KimmelT F Schilling
Apr 16, 1998·Nature Genetics·J H PostlethwaitW S Talbot
Mar 11, 1999·Current Opinion in Neurobiology·A Buonanno, R D Fields
Nov 7, 2000·Developmental Dynamics : an Official Publication of the American Association of Anatomists·H L StickneyS H Devoto
Aug 14, 2001·The Journal of Biological Chemistry·D YangH Cheng
Nov 16, 2001·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Marina MatyashHelmut Kettenmann
Jan 31, 2002·Proceedings of the National Academy of Sciences of the United States of America·Edward Felder, Clara Franzini-Armstrong
Feb 28, 2002·Frontiers in Bioscience : a Journal and Virtual Library·Feliciano Protasi
Sep 6, 2002·The Journal of Biological Chemistry·Bailong XiaoS R Wayne Chen
Sep 25, 2002·Physiological Reviews·Michael Fill, Julio A Copello
Jul 3, 2003·Nature Reviews. Molecular Cell Biology·Michael J BerridgeH Llewelyn Roderick
Feb 22, 2005·Nature Genetics·Ran KafriYitzhak Pilpel
May 20, 2005·Current Opinion in Cell Biology·Elena Conti, Elisa Izaurralde
May 28, 2005·Current Opinion in Neurobiology·Thibault CollinIsabel Llano
Jul 22, 2005·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Qiang LiuZhao-Wen Wang
Oct 27, 2005·Journal of Cell Science·Caroline BrennanRachel Ashworth
Nov 15, 2005·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Mihail G CheluSusan L Hamilton
Dec 21, 2005·Annals of Neurology·Nigel F ClarkeKathryn N North
Mar 23, 2007·Neuromuscular Disorders : NMD·Heinz JungbluthFrancesco Muntoni
May 19, 2007·Biotechnic & Histochemistry : Official Publication of the Biological Stain Commission·M B Walker, C B Kimmel
Nov 16, 2007·Proceedings of the National Academy of Sciences of the United States of America·Elena ZvaritchDavid H Maclennan
Jan 9, 2008·Neurology·Leslie Morrison
Feb 27, 2008·Annals of Neurology·Nigel F ClarkeKathryn N North
Mar 4, 2008·Current Opinion in Pharmacology·Susan TrevesFrancesco Zorzato
Aug 21, 2008·Proceedings of the National Academy of Sciences of the United States of America·Michael J JurynecDavid Jonah Grunwald
Sep 5, 2008·Current Opinion in Neurology·Caroline A SewryFrancesco Muntoni
Jun 29, 2010·Human Mutation·Nigel F ClarkeKathryn N North
Sep 15, 2010·Annals of Neurology·J M WilmshurstHeinz Jungbluth
Oct 22, 2010·Cold Spring Harbor Perspectives in Biology·Johanna T LannerSusan L Hamilton
Nov 4, 2010·Nucleic Acids Research·Paul FlicekStephen M J Searle
Dec 2, 2010·Biochimica Et Biophysica Acta·David H Maclennan, Elena Zvaritch
Apr 26, 2011·Neuromuscular Disorders : NMD·James J DowlingHeinz Jungbluth
Oct 21, 2011·Physiological Reviews·Stefano Schiaffino, Carlo Reggiani

❮ Previous
Next ❯

Citations

Apr 1, 2020·Disease Models & Mechanisms·Maaike van PuttenJames J Dowling

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR

Software Mentioned

DanioVision
EthoVision XT
ImageJ

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.