Results 11 to 20 of about 160,746 (308)

Mitochondrial Dysfunction in Attention Deficit Hyperactivity Disorder

Eurasian Journal of Medicine, 2022
Attention deficit hyperactivity disorder is a neurodevelopmental disorder with primary symptoms of inat-tention, hyperactivity, and impulsivity, beginning in early childhood.
Hakan Öğütlü, Meryem Kaşak, Selin Tutku Tabur   +2 more
doaj   +3 more sources

Mitochondrial disorder caused Charles Darwin's cyclic vomiting syndrome

International Journal of General Medicine, 2014
Josef Finsterer,1 John Hayman21Krankenanstalt Rudolfstiftng, Vienna, Austria; 2Department of Pathology, University of Melbourne, Victoria, AustraliaBackground: Charles Darwin (CD), “father of modern biology,” suffered from multisystem illness
Finsterer J, Hayman J
doaj   +1 more source

Peripheral mitochondrial DNA as a neuroinflammatory biomarker for major depressive disorder

Neural Regeneration Research
In the pathogenesis of major depressive disorder, chronic stress-related neuroinflammation hinders favorable prognosis and antidepressant response. Mitochondrial DNA may be an inflammatory trigger, after its release from stress-induced dysfunctional ...
Jinmei Ye, Cong Duan, Jiaxin Han, Jinrong Chen, Ning Sun, Yuan Li, Tifei Yuan, Daihui Peng   +7 more
doaj   +2 more sources

Mechanotranduction Pathways in the Regulation of Mitochondrial Homeostasis in Cardiomyocytes

Frontiers in Cell and Developmental Biology, 2021
Mitochondria are one of the most important organelles in cardiomyocytes. Mitochondrial homeostasis is necessary for the maintenance of normal heart function.
Hongyu Liao, Yan Qi, Yida Ye, Peng Yue, Donghui Zhang, Yifei Li   +5 more
doaj   +1 more source

A Case of Childhood Onset of Extended Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis Phenotype with Pathogenic Polymerase Gamma Variation

Indian Pediatrics Case Reports, 2023
Background: Ataxia neuropathy spectrum, including sensory ataxia neuropathy, dysarthria, and ophthalmoparesis (SANDO), is a part of polymerase gamma (POLG) gene-related disorder, a heterogeneous group of mitochondrial disorders.
Ami Shah, Shilpa Kulkarni, Snehal Mallakmir, Rashid Merchant   +3 more
doaj   +1 more source

DdCBE mediates efficient and inheritable modifications in mouse mitochondrial genome

Molecular Therapy: Nucleic Acids, 2022
Critical mutations of mitochondrial DNA (mtDNA) generally lead to maternally inheritable diseases that affect multiple organs and systems; however, it was difficult to alter mtDNA in mammalian cells to intervene in or cure mitochondrial disorders ...
Jiayin Guo, Xiaoxu Chen, Zhiwei Liu, Haifeng Sun, Yu Zhou, Yichen Dai, Yu'e Ma, Lei He, Xuezhen Qian, Jianying Wang, Jie Zhang, Yichen Zhu, Jun Zhang, Bin Shen, Fei Zhou   +14 more
doaj   +1 more source

Treatment for mitochondrial disorders [PDF]

Cochrane Database of Systematic Reviews, 2012
Mitochondrial respiratory chain disorders are the most prevalent group of inherited neurometabolic diseases. They present with central and peripheral neurological features usually in association with other organ involvement including the eye, the heart, the liver, and kidneys, diabetes mellitus and sensorineural deafness.
Gerald, Pfeffer, Kari, Majamaa, Douglass M, Turnbull, David, Thorburn, Patrick F, Chinnery   +4 more
openaire   +2 more sources

The Eye on Mitochondrial Disorders [PDF]

Journal of Child Neurology, 2015
Ophthalmologic manifestations of mitochondrial disorders are frequently neglected or overlooked because they are often not regarded as part of the phenotype. This review aims at summarizing and discussing the etiology, pathogenesis, diagnosis, and treatment of ophthalmologic manifestations of mitochondrial disorders.
Finsterer, J., Zarrouk-Mahjoub, S., Daruich, A.   +2 more
openaire   +4 more sources

The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review

The Turkish Journal of Pediatrics, 2023
Background. Combined oxidative phosphorylation deficiency-1 (COXPD1) resulting from a mutation in the G elongation factor mitochondrial 1 (GFM1) gene is an autosomal recessive multisystem disorder arising from a defect in the mitochondrial ...
Dejan Aleksic, Marina Gazdic Jankovic, Stefan Todorovic, Marija Kovacevic, Milan Borkovic   +4 more
doaj   +1 more source

Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis. [PDF]

, 2012
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues and ...
Padovani Alessandro, SCARPELLI, Mauro, Anna Russignan, Padovani, A, PADOVANI, Alessandro, Bereczki, C, Paola Tonin, Bax Bridget E., Buono, R, Filosto Massimiliano, ZAPPINI, Francesca, Filosto M., Russignan, A, Bridget E. Bax, Alessandro Padovani, Zappini, F, Filosto, M, Bereczki Csaba, Bax, BE, Tonin, P, Massimiliano Filosto, Bax B. E., Padovani A., Zombor, M, Tonin Paola, Buono, Romina, Bereczki C., Zombor Melinda, Zombor M., Mauro Scarpelli, Romina Buono, Zappini Francesca, Scarpelli Mauro, Csaba Bereczki, Russignan Anna, Francesca Zappini, RUSSIGNAN, Anna, Buono Romina, TONIN, PAOLA, Melinda Zombor, Scarpelli, M   +40 more
core   +1 more source