Results 11 to 20 of about 159,415 (265)

Mitochondrial disorders [PDF]

Annals of Translational Medicine, 2018
Primary mitochondrial disorders are a group of clinically variable and heterogeneous inborn errors of metabolism (IEMs), resulting from defects in cellular energy, and can affect every organ system of the body. Clinical presentations vary and may include symptoms of fatigue, skeletal muscle weakness, exercise intolerance, short stature, failure to ...
Shibani, Kanungo, Jacob, Morton, Mekala, Neelakantan, Kevin, Ching, Jasmine, Saeedian, Amy, Goldstein   +5 more
openaire   +2 more sources

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

Epilepsy in mitochondrial disorders [PDF]

Seizure, 2012
Information about epilepsy in mitochondrial disorders is scarce although a number or syndromic and non-syndromic mitochondrial disorders frequently manifest with focal or generalized seizures. Aim of the review was to describe epilepsy in syndromic and non-syndromic mitochondrial disorders with epilepsy as a dominant or collateral feature of the ...
Finsterer, Josef, Zarrouk Mahjoub, Sinda
openaire   +2 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

Glucocorticoids for mitochondrial disorders [PDF]

Singapore Medical Journal, 2015
Dear Sir, Although there is no causal treatment of mitochondrial disorders (MIDs) yet available,(1) treatment strategies to enhance respiratory chain (RC) functions, eliminate noxious compounds, shift the heteroplasmy rate, alter mitochondrial dynamics, transfer cytoplasm, or treat genes are increasingly applied.(1) One of the pharmacological ...
Josef, Finsterer, Marlies, Frank
openaire   +2 more sources

Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series

Frontiers in Neurology, 2023
BackgroundMitochondrial DNA (mtDNA) depletion syndromes (MDDS) are genetically and clinically variable disorders resulting from a reduction in mtDNA content in the cells, tissues, and organ systems, leading to symptoms related to energy deficits ...
Montaha Almudhry, Montaha Almudhry, Arushi Gahlot Saini, Mohammed A. Al-Omari, Mohammed A. Al-Omari, Yashu Sharma, Maryam Nabavi Nouri, Maryam Nabavi Nouri, Maryam Nabavi Nouri, C. Anthony Rupar, C. Anthony Rupar, C. Anthony Rupar, Chitra Prasad, Chitra Prasad, Chitra Prasad, Andrea C. Yu, Savita Verma Attri, Asuri Narayan Prasad, Asuri Narayan Prasad, Asuri Narayan Prasad   +19 more
doaj   +1 more source

Colonic Oxidative and Mitochondrial Function in Parkinson’s Disease and Idiopathic REM Sleep Behavior Disorder

Parkinson's Disease, 2017
Objective. To determine potential mitochondrial and oxidative alterations in colon biopsies from idiopathic REM sleep behavior disorder (iRBD) and Parkinson’s disease (PD) subjects. Methods.
C. Morén, Í. González-Casacuberta, J. Navarro-Otano, D. Juárez-Flores, D. Vilas, G. Garrabou, J. C. Milisenda, C. Pont-Sunyer, M. Catalán-García, M. Guitart-Mampel, E. Tobías, F. Cardellach, F. Valldeoriola, A. Iranzo, E. Tolosa   +14 more
doaj   +1 more source

Mitochondrial Disorders

Medicine, 1998
Mitochondrial respiration, the most efficient metabolic pathway devoted to energy production, is at the crosspoint of 2 quite different genetic systems, the nuclear genome and the mitochondrial genome (mitochondrial DNA, mtDNA). The latter encodes a few essential components of the mitochondrial respiratory chain and has unique molecular and genetic ...
M, Zeviani, V, Tiranti, C, Piantadosi
openaire   +2 more sources

Malingering and factitious disorder (Münchausen-syndrome) can be mitochondrial

Indian Journal of Psychological Medicine, 2016
Malingering and factitious disorder (Münchausen-syndrome) has not been reported as a manifestation of a mitochondrial-disorder (MID). Here, we report a 46 years-old female with a MID due to a combined complex I-IV defect, manifesting in the cerebrum ...
Josef Finsterer, Lässer Stefan
doaj   +1 more source