Filtered By:
Nutrition: Calcium

This page shows you your search results in order of relevance.

Order by Relevance | Date

Total 268 results found since Jan 2013.

Potassium dependent rescue of a myopathy with core-like structures in mouse
In this study, we identify a mouse RyR1 model in which heterozygous animals display clinical and pathological hallmarks of myopathy with core-like structures. The RyR1 mutation decreases sensitivity to activated calcium release and myoplasmic calcium levels, subsequently affecting mitochondrial calcium and ATP production. Mutant muscle shows a persistent potassium leak and disrupted expression of regulators of potassium homeostasis. Inhibition of KATP channels or increasing interstitial potassium by diet or FDA-approved drugs can reverse the muscle weakness, fatigue-like physiology and pathology. We identify regulators of ...
Source: eLife - January 7, 2015 Category: Biomedical Science Tags: Cell Biology congenital myopathy Human KATP channel Mouse potassium homeostasis ryanodine receptor Source Type: research

SPEG deficiency is associated with muscle weakness, triad defect, abnormal calcium handling and EC coupling
Centronuclear myopathies (CNM) are a subtype of congenital myopathies (CM) characterized by skeletal muscle weakness and an increase in the number of central myonuclei. We have identified three CNM probands, two with dilated cardiomyopathy, carrying SPEG mutations. SPEG protein localizes to the terminal cisternae of the sarcoplasmic reticulum (SR). We previously described that SPEG interacts with myotubularin, a protein also linked to a type of CNM called myotubular myopathy. Currently, the role of SPEG in muscle function is unclear.
Source: Neuromuscular Disorders - September 10, 2017 Category: Neurology Authors: V. Huntoon, J. Widrick, C. Sanchez, C. Kutchukian, S. Cao, A. Beggs, V. Jacquemond, P. Agrawal Source Type: research

Ca2+-induced sarcoplasmic reticulum Ca2+ release in myotubularin-deficient muscle fibers.
Abstract Skeletal muscle deficiency in the 3-phosphoinositide (PtdInsP) phosphatase myotubularin (MTM1) causes myotubular myopathy which is associated with severe depression of voltage-activated sarcoplasmic reticulum Ca2+ release through ryanodine receptors. In the present study we aimed at further understanding how Ca2+ release is altered in MTM1-deficient muscle fibers, at rest and during activation. While in wild-type muscle fibers, SR Ca2+ release exhibits fast stereotyped kinetics of activation and decay throughout the voltage range of activation, Ca2+ release in MTM1-deficient muscle fibers exhibits slow an...
Source: Cell Calcium - April 9, 2019 Category: Cytology Authors: Kutchukian C, Szentesi P, Allard B, Buj-Bello A, Csernoch L, Jacquemond V Tags: Cell Calcium Source Type: research

Late breaking news e-poster presentation
Skeletal muscle-targeted therapies that increase contractility hold promise for the treatment of neuromuscular diseases. As a compound class, fast skeletal muscle troponin activators (FSTAs) directly increase muscle calcium (Ca ²+) sensitivity and amplify the muscle force response to subtetanic neural stimulation. Disease-modifying therapies like systemic gene transfer have previously been shown to improve muscle function in a canine model of myotubular myopathy. The purpose of the current study was to evaluate the expand ed utility of a canine skeletal muscle model to understand the pharmacokinetic/pharmacodynamic (PK/PD...
Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: Dr. Robert W Grange, Dr. Eva R Chin, Dr. Jordan Klaiman, Dr. Darren Hwee, Dr. Bradley Morgan, Dr. Fady Malik, Dr. Martin Childers, Dr. SiWei Luo, Dr. David Mack Source Type: research

Disrupted T-tubular network accounts for asynchronous calcium release in MTM1 deficient skeletal muscle
This article is protected by copyright. All rights reserved.PMID:36408764 | DOI:10.1113/JP283650
Source: The Journal of Physiology - November 21, 2022 Category: Physiology Authors: Peter Szentesi Beatrix Dienes Candice Kutchukian Tamas Czirjak Ana Buj-Bello Vincent Jacquemond Laszlo Csernoch Source Type: research

G.P.26: Vitamin D deficiency myopathy in Egypt: A treatable myopathy
Vitamin D deficiency could be due to decreased bioavailability (decreased intake or exposure to sunlight, urinary loss or malabsorption), abnormal metabolism (liver disease, renal disease) or abnormal target tissue response (vitamin D resistant or gastrointestinal disorders). Vitamin D deficiency is one of the causes of osteomalacic myopathy. To highlight the clinical and laboratory characteristics of vitamin D deficiency myopathy in Egypt and to discuss its therapeutic implications. All patients presented with gradual progressive limb-girdle weakness with or without bony pains, pains of limb muscles, low backache or joint...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: N.A. Fahmy, D. Fayez Source Type: research

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations
Conclusions Fast skeletal troponin activation is a therapeutic mechanism to augment contractile protein function in nemaline myopathy patients with nebulin mutations and with other neuromuscular diseases.
Source: Journal of Medical Genetics - May 13, 2013 Category: Genetics & Stem Cells Authors: de Winter, J. M., Buck, D., Hidalgo, C., Jasper, J. R., Malik, F. I., Clarke, N. F., Stienen, G. J. M., Lawlor, M. W., Beggs, A. H., Ottenheijm, C. A. C., Granzier, H. Tags: Surgery, Muscle disease, Neuromuscular disease, Surgical diagnostic tests, Clinical diagnostic tests Therapeutics Source Type: research

Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy
In conclusion, we have characterized the first nebulin-based nemaline myopathy model, which recapitulates important features of the phenotype observed in patients harbouring this particular mutation, and which has severe muscle weakness caused by thin filament dysfunction.
Source: Brain - June 5, 2013 Category: Neurology Authors: Ottenheijm, C. A. C., Buck, D., de Winter, J. M., Ferrara, C., Piroddi, N., Tesi, C., Jasper, J. R., Malik, F. I., Meng, H., Stienen, G. J. M., Beggs, A. H., Labeit, S., Poggesi, C., Lawlor, M. W., Granzier, H. Tags: Original Articles Source Type: research

P.12.2 Dominant distal myopathy due to slow channelopathy
We examined 3 biopsies in 3 patients (2 males – 55years and 66years, 1 female – 61years) presenting a dominant distal myopathy with variable age at onset (from second to third decade). The patients had ophtalmoparesis, upper limb extensor, forearm and finger weakness and distal myopathy with a progressive slow course.The woman had also some difficulty in anterior tibial flexor muscle but also atrophy of forearms muscles. Electrophysiology on single stimulus of ulnar nerve showed repetitive CMAP.The genomic wide linkage analysis identified 3 regions co-segregating with the disease in chromosome 1, 13, 17. Next generatio...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: C. Angelini, G. Vazza, M.L. Mostacciuolo Source Type: research

Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility
Abstract Whole exome sequencing (WES) was used to determine the primary cause of muscle disorder in a family diagnosed with a mild, undetermined myopathy and malignant hyperthermia (MH) susceptibility (MHS). WES revealed the compound heterozygous mutations, p.Ile235Asn and p.Glu982Lys, in ATP2A1, encoding the sarco(endo)plasmic reticulum Ca2+ ATPase type 1 (SERCA1), a calcium pump, expressed in fast‐twitch muscles. Recessive mutations in ATP2A1 are known to cause Brody myopathy, a rare muscle disorder characterized by exercise‐induced impairment of muscle relaxation and stiffness. Analyses of affected muscles showed th...
Source: Molecular Genetics & Genomic Medicine - June 6, 2014 Category: Genetics & Stem Cells Authors: Nyamkhishig Sambuughin, Elena Zvaritch, Natasha Kraeva, Olga Sizova, Erica Sivak, Kelley Dickson, Margaret Weglinski, John Capacchione, Sheila Muldoon, Sheila Riazi, Susan Hamilton, Barbara Brandom, David H. MacLennan Tags: Original Article Source Type: research

P.15.12 Tubular aggregate myopathy caused by a heterozygous missense mutation in STIM1
This woman, now 33years old, was first investigated at age 14 and previously described as a case report of tubular aggregate myopathy (Tulinius MH, Lundberg A, Oldfors A. Early-onset myopathy with tubular aggregates. Pediatric Neurol 1996;15:68–71). There was no family history of neuromuscular disease. Early motor milestones were normal. She never learned to run and at four years the parents noted she had a wide-based gait. At 12years she lost the ability to rise from the squatting position without using her hands. The muscle weakness was slowly progressive over the years and she now presents with moderate proximal muscl...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: A. Oldfors, C. Hedberg, B. Lindvall, M. Tulinius Source Type: research

G.O.1: Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels
Tubular aggregate myopathy (TAM) is a hereditary muscle disorder that is pathologically characterized by the presence of tubular aggregates. The responsible genes have not been clarified for many individuals affected by TAM. In order to identify the genetic cause of TAM, we performed whole exome sequencing in genomic DNA from 2 families affected by dominant TAM with hypocalcemia. We identified one common variant in both families, heterozygous missense mutation, c.292G>A (Gly98Ser) in ORAI1. We also found an additional heterozygous missense mutation, c.412C>T (p.Leu138Phe) in ORAI1, in the third TAM family by Sanger sequenc...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: Y. Endo, S. Noguchi, Y. Hara, Y.K. Hayashi, K. Motomura, N. Murakami, S. Tanaka, S. Yamashita, R. Kizu, M. Bamba, Y. Goto, S. Miyatake, N. Matsumoto, I. Nonaka, I. Nishino Source Type: research