Results 71 to 80 of about 3,285 (240)
Role of Succinate Dehydrogenase in Age‐Related Th17 Inflammation
Aging Cell, Volume 25, Issue 4, April 2026.Age‐induced mitoSTAT3‐dependent upregulation of mitochondrial complex II; succinate dehydrogenase (SDH), in CD4+ T cells promotes an imbalance in the levels of metabolites succinate and fumarate, characterized by lower succinate and higher fumarate. Changes in the metabolites alter mitochondrial structure and function and promote HIF1α to induce the ...
Evelyn Ocegueda +17 more
wiley +1 more source
Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency
Clinical Genetics, Volume 109, Issue 4, Page 784-787, April 2026.We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou +3 more
wiley +1 more source
Diagnostic Criteria and Management of MELAS and Stroke‐Like Episodes: Consensus‐Based Statements
European Journal of Neurology, Volume 33, Issue 4, April 2026.International Delphi‐based consensus defining MELAS as a clinical syndrome characterized by one or more stroke‐like episodes in the presence of a pathogenic mitochondrial DNA variant, most commonly m.3243A>G. The panel provides practical recommendations for acute and chronic management of stroke‐like episodes and highlights the absence of proven ...
Michelangelo Mancuso +26 more
wiley +1 more source
Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency
JIMD Reports, Volume 67, Issue 2, March 2026.ABSTRACT Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in ALDH5A1, encoding the mitochondrial enzyme SSADH. This enzyme catalyses the conversion of succinic semialdehyde to succinic acid in the γ‐aminobutyric acid (GABA) degradation pathway.
Sharmila Kiss +10 more
wiley +1 more source
JIMD Reports, Volume 67, Issue 2, March 2026.ABSTRACT Succinate dehydrogenase (SDH) serves a dual function as complex II of the electron transport chain and an enzyme of the tricarboxylic acid cycle. Pathogenic variants in subunits of SDH result in diverse clinical presentations, including typically autosomal recessive neurodegenerative disorders. Biallelic variants in the SDHA subunit most often
Aaron B. Bowen +7 more
wiley +1 more source
Journal of Pediatric Gastroenterology and Nutrition, Volume 82, Issue 3, Page 660-671, March 2026.Abstract Objectives Pediatric intestinal pseudo‐obstruction (PIPO) is a severe bowel motility disorder characterized by impaired propulsion of gastrointestinal contents without mechanical obstruction. PIPO encompasses congenital and acquired disorders, including neuropathies, myopathies, and mesenchymopathies.
Sharon Wolfson +8 more
wiley +1 more source
Epidemiology of progressive intellectual and neurological deterioration in UK children
Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity +3 more
wiley +1 more source
Mitochondrial encephalopathy: a case report and review of the literature
Chinese Journal of Contemporary Neurology and Neurosurgery, 2013 Objective To investigate the clinical, imaging and pathological characteristics of one case of mitochondrial encephalopathy. Methods The data of physical examination, electromyopraphy (EMG), cranial CT and MRI, electroencephalography (EEG), serologic ...
Yu-qiao XU +4 more
doaj
Oxidative Stress and Mitochondrial Injury in Chronic Multisymptom Conditions: From Gulf War Illness to Autism Spectrum Disorder [PDF]
, 2012 Background: Overlapping chronic multisymptom illnesses (CMI) include Chronic Fatigue Syndrome (CFS), fibromyalgia, irritable bowel syndrome, multiple chemical sensitivity, and Gulf War illness (GWI), and subsets of autism spectrum disorder (ASD).
Beatrice A. Golomb
core +1 more source
Non-Random mtDNA Segregation Patterns Indicate a Metastable Heteroplasmic Segregation Unit in m.3243A>G Cybrid Cells [PDF]
, 2012 Many pathogenic mitochondrial DNA mutations are heteroplasmic, with a mixture of mutated and wild-type mtDNA present within individual cells. The severity and extent of the clinical phenotype is largely due to the distribution of mutated molecules ...
Chinnery, P.F. (Patrick) +12 more
core +1 more source