Results 61 to 70 of about 8,951 (213)

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, Gabrielle Chase, Michaella Niceforo, Aida Javidan, Lydia Gugliuzza, Jingting Yu, Rachel Y. Kang, Ava Lankowski, Olivia Stefanik, Kailey Leclerc, Yolander Valentine, Micah J. Drummond, Jude T. Deeney, Josephine S. Modica‐Napolitano, Elizabeth A. Proctor, Hatice Hasturk, Barbara S. Nikolajczyk, Leena P. Bharath   +17 more
wiley   +1 more source

Traumatic Brain Injury Triggers Neurodegeneration in a Mildly Symptomatic MELAS Patient: Implications on the Detrimental Role of Damaged Mitochondria in Determining Head Trauma Sequalae in the General Population

Metabolites, 2022
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited genetic mitochondrial disease with a typical onset in the first two decades of life and a major involvement of central nervous system ...
Simona Zanotti, Daniele Velardo, Monica Sciacco   +2 more
doaj   +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, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

Pseudo-obstrução intestinal em paciente com diabetes mitocondrial que apresentou boa resposta ao tratamento adjunto com coenzima Q10 [PDF]

, 2008
Maternally inherited diabetes and deafness (MIDD) has been related to an A to G transition in the mitochondrial tRNA Leu (UUR) gene at the base pair 3243.
Bergamin, Carla S., Dib, Sergio Atala, Moises, Regina Celia Mello Santiago, Rolim, Luiz Clemente de Souza Pereira   +3 more
core   +3 more sources

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, Marcello Bellusci, Valerio Carelli, Irenaeus de Coo, Daria Diodato, Felix Distelmaier, Omar Hikmat, Michio Hirano, Rita Horvath, Amel Karaa, Thomas Klopstock, Mary Kay Koenig, Cornelia Kornblum, Chiara La Morgia, Piervito Lopriore, Mika Henrik Martikainen, Robert McFarland, Olimpia Musumeci, Robert D. S. Pitceathly, Guido Primiano, Shamima Rahman, Fernando Scaglia, Andrew Schaefer, Manuel Schiff, Luisa Semmler, Costanza Lamperti, Serenella Servidei   +26 more
wiley   +1 more source

Hypoglycemia in Mitochondrial Disorders [PDF]

, 2019
INTRODUCTION: The electron transport chain (ETC) in mitochondria functions to produce energy in the form of adenosine triphosphate (ATP). Defects in the mitochondrial or nuclear DNA that codes for components of the ETC lead to mitochondrial disorders ...
Moats, Allison
core   +1 more source

Mitochondrial Cardiomyopathies [PDF]

, 2016
Mitochondria are found in all nucleated human cells and perform a variety of essential functions, including the generation of cellular energy. Mitochondria are under dual genome control.
Ayman W. El-Hattab, Fernando Scaglia
core   +2 more sources

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, Richard J. Leventer, Cormac Duff, Emma Macdonald‐Laurs, Olivia‐Paris Quinn, Fahaz Nazer, Michelle Cao, Abisha Srikumar, Jenzen Dalina, Mary Eggington, Joy Yaplito‐ Lee   +10 more
wiley   +1 more source

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1) [PDF]

Journal of Clinical Medicine, 2018
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE-MTDPS1) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause a loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues, and mitochondrial dysfunction. The clinical picture includes progressive gastrointestinal dysmotility,
Filosto M., Piccinelli S. C., Caria F., Cassarino S. G., Baldelli E., Galvagni A., Volonghi I., Scarpelli M., Padovani A.   +8 more
openaire   +3 more sources

Epilepsy Phenotype and EEG Finding of Rhythmic High‐Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency

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, Chiadika Nwanze, Cesar Alves, Lance Rodan, Anna Lecticia Pinto, Melissa A. Walker, Irina Anselm, Phillip L. Pearl   +7 more
wiley   +1 more source