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Nutrition: Calcium

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Total 268 results found since Jan 2013.

Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population
ConclusionIn retrospect, his symptomatology matches the known medical conditions associated with theATP1A3 gene namely Alternating Hemiplegia of Childhood 2 (AHC), a rare autosomal dominant disorder with an incidence of 1 in one million. His single nucleotide variant, (c.2401G>A, p.D801N), is predicted to be damaging. The specific amino acid change p.D801N has been previously reported in ClinVar along with the allelic variant p.D801Y and both are considered pathogenic. The identification of this variant altered medical management for this patient as he was started on a calcium antagonist and has reported no further hemi...
Source: Molecular Genetics & Genomic Medicine - August 24, 2023 Category: Genetics & Stem Cells Authors: Cara P. Ford, Rebecca O. Littlejohn, Ryan German, Blake Vuocolo, Jose Aceves, Liesbeth Vossaert, Nichole Owen, Michael Wangler, Carrie A. Schmid, The Texome Project Tags: CLINICAL REPORT Source Type: research

Nonsurgical hypoparathyroidism is associated with skeletal muscle dysfunction and restrictive lung disease
CONCLUSION: Detailed testing of patients with HP without overt muscle and lung diseases revealed significant impairment in parameters of skeletal muscle function. Myopathy and RLD were observed in a considerable proportion of patients with HP.PMID:37477385 | DOI:10.1093/ejendo/lvad091
Source: European Journal of Endocrinology - July 21, 2023 Category: Endocrinology Authors: Takasi Anush Babu Zia Hashim Zafar Neyaz Vinita E Mani Neeraj Jain Eesh Bhatia Anjali Mishra Saroj Kumar Sahoo Source Type: research

Effective treatment of choreaballism due to an MT ‐CYB variant with haloperidol, tetrabenazine, and antioxidants
Cerebral CT showing bilateral putaminal calcifications of a patient with multisystem mitochondrial disorder due to the variant 15043G  >  A inMT-CYB. Key Clinical MessageHypokinetic and hyperkinetic movement disorders are a common phenotypic feature of mitochondrial disorders. Choreaballism has been reported particularly in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome and in maternally inherited diabetes and deafness syndrome. The pathophysiological basis of movement disorders in mitochondrial disorders is the involvement of the basal ganglia or the midbrain. Haloper...
Source: Clinical Case Reports - June 21, 2023 Category: General Medicine Authors: Josef Finsterer, Ritwik Ghosh Tags: CASE REPORT Source Type: research

Role of mitochondria in the myopathy of juvenile dermatomyositis and implications for skeletal muscle calcinosis
CONCLUSIONS: Overall, our study demonstrates the mitochondrial involvement in the skeletal muscle pathology and calcinosis of JDM and mtROS as a central player in the calcification of human skeletal muscle cells. Therapeutic targeting of mtROS and/or upstream inducers, such as inflammation, may alleviate mitochondrial dysfunction, leading to calcinosis. AMAs can potentially identify patients with JDM at risk for developing calcinosis.PMID:37244073 | DOI:10.1016/j.jaut.2023.103061
Source: Journal of Autoimmunity - May 27, 2023 Category: Allergy & Immunology Authors: Bhargavi Duvvuri Lauren M Pachman Payton Hermanson Ting Wang Richard Moore Dennis Ding-Hwa Wang Aaron Long Gabrielle A Morgan Stephen Doty Rong Tian Yasemin Sancak Christian Lood Source Type: research

Skeletal muscle delimited myopathy and verapamil toxicity in SUR2 mutant mouse models of AIMS
EMBO Mol Med. 2023 May 8:e16883. doi: 10.15252/emmm.202216883. Online ahead of print.ABSTRACTABCC9-related intellectual disability and myopathy syndrome (AIMS) arises from loss-of-function (LoF) mutations in the ABCC9 gene, which encodes the SUR2 subunit of ATP-sensitive potassium (KATP ) channels. KATP channels are found throughout the cardiovascular system and skeletal muscle and couple cellular metabolism to excitability. AIMS individuals show fatigability, muscle spasms, and cardiac dysfunction. We found reduced exercise performance in mouse models of AIMS harboring premature stop codons in ABCC9. Given the roles of KA...
Source: Molecular Medicine - May 8, 2023 Category: Molecular Biology Authors: Conor McClenaghan Maya A Mukadam Jacob Roeglin Robert C Tryon Manfred Grabner Anamika Dayal Gretchen A Meyer Colin G Nichols Source Type: research

Tubular aggregate myopathy mutant unveils novel activation and inactivation mechanisms of Orai1
Cell Calcium. 2023 Apr 7;112:102739. doi: 10.1016/j.ceca.2023.102739. Online ahead of print.NO ABSTRACTPMID:37058922 | DOI:10.1016/j.ceca.2023.102739
Source: Cell Calcium - April 14, 2023 Category: Cytology Authors: Isabella Derler Christoph Romanin Source Type: research

Mitochondrial calcium uptake 1 (MICU1) gene-related myopathy with extrapyramidal signs: A clinico-radiological case report from India
This report expands the clinico-radiological presentation and to the best of our knowledge, is the first report of MICU-related MPXPS from India.
Source: Annals of Indian Academy of Neurology - January 25, 2023 Category: Neurology Authors: Debaleena Mukherjee Adreesh Mukherjee Subhadeep Gupta Souvik Dubey Alak Pandit Source Type: research

Mitochondrial creatine sensitivity is lost in the D2.mdx model of Duchenne muscular dystrophy and rescued by the mitochondrial-enhancing compound Olesoxime
Am J Physiol Cell Physiol. 2023 Jan 23. doi: 10.1152/ajpcell.00377.2022. Online ahead of print.ABSTRACTDuchenne muscular dystrophy (DMD) is associated with distinct mitochondrial stress responses. Here, we aimed to determine whether the prospective mitochondrial-enhancing compound Olesoxime prevents early-stage mitochondrial stress in limb and respiratory muscle from D2.mdx mice using a proof-of-concept short-term regimen spanning 10-28 days of age. As mitochondrial-cytoplasmic energy transfer occurs via ATP- or phosphocreatine-dependent phosphate shuttling, we assessed bioenergetics with or without creatine in vitro. We o...
Source: American Journal of Physiology. Cell Physiology - January 23, 2023 Category: Cytology Authors: Catherine A Bellissimo Luca J Delfinis Meghan C Hughes Patrick C Turnbull Shivam Gandhi Sara N DiBenedetto Fasih A Rahman Peyman Tadi Christina A Amaral Ali Dehghani James Cobley Joe Quadrilatero Uwe Schlattner Christopher G R Perry Source Type: research