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Nutrition: Calcium

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Total 268 results found since Jan 2013.

Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene
Conclusions: These findings indicate that levosimendan does not improve the contractility in human skeletal muscle fibers, and do not provide rationale for using levosimendan as a therapeutic to restore muscle weakness in NEB-NM patients. We stress the importance of searching for compounds that improve the calcium-sensitivity of force generation of slow-twitch muscle fibers. Such compounds provide an appealing approach to restore muscle force in patients with NEB-NM, and also in patients with other neuromuscular disorders.
Source: Skeletal Muscle - April 28, 2015 Category: Research Authors: Josine de WinterBarbara JoureauVasco SequeiraNigel ClarkeJolanda van der VeldenGer StienenHenk GranzierAlan BeggsCoen Ottenheijm Source Type: research

50 years to diagnosis - autosomal dominant tubular aggregate myopathy caused by a novel mutation
• We show cellular consequences of altered STIM1 function in a German family with tubular aggregate myopathy.• Patients mainly had a progressive myopathy, contractures and ophthalmoplegia.• Sequencing revealed a novel mutation c242G>A in the first calcium binding EF domain.• Increased calcium influx pointed at alteration of intracellular calcium homeostasis.• This new family widens the spectrum of STIM1-myopathies to a more severe phenotype.
Source: Neuromuscular Disorders - April 16, 2015 Category: Neurology Authors: Maggie C. Walter, Martina Rossius, Manuela Zitzelsberger, Matthias Vorgerd, Wolfgang Müller-Felber, Brigitte Ertl-Wagner, Yaxin Zhang, Heinrich Brinkmeier, Jan Senderek, Benedikt Schoser Tags: Case report Source Type: research

Complications of Vitamin D deficiency from the foetus to the infant: One cause, one prevention, but who’s responsibility?
Publication date: Available online 24 March 2015 Source:Best Practice & Research Clinical Endocrinology & Metabolism Author(s): Wolfgang Högler Calcium and phosphorus represent building material for bones. The supplier of these bone minerals is the hormone calcitriol, which originates from vitamin D, itself made by sunshine in human skin. Requirement for bone minerals is highest during phases of rapid growth, and no one grows faster than the foetus and the infant, making them particularly vulnerable. Deprivation of calcium, whether through low calcium intake or low vitamin D, leads to serious health cons...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - March 26, 2015 Category: Endocrinology Source Type: research

Defects in calcium homeostasis and mitochondria can be reversed in Pompe disease.
This study provides strong evidence that disturbance of Ca(2+) homeostasis and mitochondrial abnormalities in Pompe disease represent early changes in a complex pathogenetic cascade leading from a deficiency of a single lysosomal enzyme to severe and hard-to-treat autophagic myopathy. Remarkably, L-type Ca(2+)channel blockers, commonly used to treat other maladies, reversed these defects, indicating that a similar approach can be beneficial to the plethora of lysosomal and neurodegenerative disorders. PMID: 25758767 [PubMed - as supplied by publisher]
Source: Autophagy - March 11, 2015 Category: Cytology Authors: Lim JA, Li L, Kakhlon O, Myerowitz R, Raben N Tags: Autophagy Source Type: research

SEPN1, an endoplasmic reticulum-localized selenoprotein linked to skeletal muscle pathology, counteracts hyperoxidation by means of redox-regulating SERCA2 pump activity
Selenoprotein N (SEPN1) is a broadly expressed resident protein of the endoplasmic reticulum (ER) whose loss-of-function inexplicably leads to human muscle disease. We found that SEPN1 levels parallel those of endoplamic reticulum oxidoreductin 1 (ERO1), an ER protein thiol oxidase, and that SEPN1's redox activity defends the ER from ERO1-generated peroxides. Moreover, we have defined the redox-regulated interactome of SEPN1 and identified the ER calcium import SERCA2 pump as a redox-partner of SEPN1. SEPN1 enhances SERCA2 activity by reducing luminal cysteines that are hyperoxidized by ERO1-generated peroxides. Cells lack...
Source: Human Molecular Genetics - March 10, 2015 Category: Genetics & Stem Cells Authors: Marino, M., Stoilova, T., Giorgi, C., Bachi, A., Cattaneo, A., Auricchio, A., Pinton, P., Zito, E. Tags: ARTICLES Source Type: research

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing
We present four unique childhood myopathy cases characterized by relatively mild muscle weakness, slowly progressing course, mildly elevated creatine phosphokinase (CPK), and contractures. We also present two additional cases characterized by severe prenatal/neonatal myopathy. Prior extensive genetic testing and histology of these cases did not reveal the genetic etiology of disease. Here, we applied whole exome sequencing (WES) and bioinformatics to identify likely causal pathogenic variants in each pedigree. In two cases, we identified novel pathogenic variants in COL6A3. In a third case, we identified novel likely patho...
Source: Molecular Genetics & Genomic Medicine - March 1, 2015 Category: Genetics & Stem Cells Authors: Jesse M. Hunter, Mary Ellen Ahearn, Christopher D. Balak, Winnie S. Liang, Ahmet Kurdoglu, Jason J. Corneveaux, Megan Russell, Matthew J. Huentelman, David W. Craig, John Carpten, Stephen W. Coons, Daphne E. DeMello, Judith G. Hall, Saunder M. Bernes, Lis Tags: Original Article Source Type: research

Bioengineered human myobundles mimic clinical responses of skeletal muscle to drugs
Existing in vitro models of human skeletal muscle cannot recapitulate the organization and function of native muscle, limiting their use in physiological and pharmacological studies. Here, we demonstrate engineering of electrically and chemically responsive, contractile human muscle tissues (‘myobundles’) using primary myogenic cells. These biomimetic constructs exhibit aligned architecture, multinucleated and striated myofibers, and a Pax7+ cell pool. They contract spontaneously and respond to electrical stimuli with twitch and tetanic contractions. Positive correlation between contractile force and GCaMP6-rep...
Source: eLife - February 16, 2015 Category: Biomedical Science Authors: Madden, L., Juhas, M., Kraus, W. E., Truskey, G. A., Bursac, N. Tags: Human biology and medicine Source Type: research

A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy
Mutations in the gene encoding the skeletal muscle ryanodine receptor type-1 (RYR1) protein (which is an intracellular calcium-release channel, crucial for excitation/contraction coupling in muscle tissues), are known to be linked to a group of myopathies in which the forerunner was central core disease (CCD) which is typically of neonatal-onset and autosomal dominant inheritance.
Source: Neuromuscular Disorders - February 9, 2015 Category: Neurology Authors: Gauthier Remiche, Hazim Kadhim, Marc Abramowicz, Nicolas Mavroudakis, Nicole Monnier, Joël Lunardi Tags: Case report Source Type: research

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 29, 2015 Category: Biomedical Science Authors: Hanson, M. G., Wilde, J. J., Moreno, R. L., Minic, A. D., Niswander, L. Tags: Cell biology Source Type: research

Loss of Function Variants in Human PNPLA8 Encoding Calcium‐Independent Phospholipase A2γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse
This article is protected by copyright. All rights reserved
Source: Human Mutation - December 1, 2014 Category: Genetics & Stem Cells Authors: Carol J. Saunders, Sung Ho Moon, Xinping Liu, Isabelle Thiffault, Keith Coffman, Jean‐Baptiste LePichon, Eugenio Taboada, Laurie D. Smith, Emily G. Farrow, Neil Miller, Margaret Gibson, Melanie Patterson, Stephen F. Kingsmore, Richard W. Gross Tags: Brief Report Source Type: research

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1
Conclusions The present study expands the phenotypical spectrum of STIM1-related tubular aggregate myopathy. STIM1 should therefore be considered for patients with tubular aggregate myopathies involving either muscle weakness or myalgia as the first and predominant clinical sign.
Source: Journal of Medical Genetics - November 17, 2014 Category: Genetics & Stem Cells Authors: Bohm, J., Chevessier, F., Koch, C., Peche, G. A., Mora, M., Morandi, L., Pasanisi, B., Moroni, I., Tasca, G., Fattori, F., Ricci, E., Penisson-Besnier, I., Nadaj-Pakleza, A., Fardeau, M., Joshi, P. R., Deschauer, M., Romero, N. B., Eymard, B., Laporte, J. Tags: Genetic screening / counselling, Muscle disease, Neuromuscular disease Genotype-phenotype correlations Source Type: research

Laryngeal spasm mimicking asthma and vitamin d deficiency.
We present a woman with heterozygous carnitine palmitoyl transferase 2 (CPT-2) deficiency who in the last 6 months suffered from episodic dyspnea and choking. Symptoms could not be attributed to her muscular energy defect, since heterozygous CPT-2 deficiency is usually asymptomatic or causes only mild muscle fatigability. Myopathy is usually triggered by concurrent factors, either genetic (additional muscle enzymes defects) or acquired (metabolic stress). The patient was referred to our respiratory clinic for suspect bronchial asthma. Spirometry showed mild decrease in inspiratory flows. Methacholine challenge was negative...
Source: Allergy, Asthma and Immunology Research - November 16, 2014 Category: Allergy & Immunology Tags: Allergy Asthma Immunol Res Source Type: research

Malignant hyperthermia.
Abstract Malignant hyperthermia (MH) is a rare hereditary, mostly subclinical myopathy. Trigger substances, such as volatile anesthetic agents and the depolarizing muscle relaxant succinylcholine can induce a potentially fatal metabolic increase in predisposed patients caused by a dysregulation of the myoplasmic calcium (Ca) concentration. Mutations in the dihydropyridine ryanodine receptor complex in combination with the trigger substances are responsible for an uncontrolled release of Ca from the sarcoplasmic reticulum. This leads to activation of the contractile apparatus and a massive increase in cellular ener...
Source: Der Anaesthesist - November 12, 2014 Category: Anesthesiology Authors: Metterlein T, Schuster F, Graf BM, Anetseder M Tags: Anaesthesist Source Type: research