نتایج جستجو برای: mitochondrial disease

تعداد نتایج: 1603053  

Previous studies demonstrated that CSE induces oxidative stress and its consequences on isolated mitochondria obtained from lung, heart and brain which may provide insight into the role of CSE in human health and disease. The present study was carried out to further characterize and compare toxic effect of CSE extract on isolated mitochondria obtained from either a directly contacting tissue (i...

2017
Charlotte L Alston Mariana C Rocha Nichola Z Lax Doug M Turnbull Robert W Taylor

Mitochondria are double-membrane-bound organelles that are present in all nucleated eukaryotic cells and are responsible for the production of cellular energy in the form of ATP. Mitochondrial function is under dual genetic control - the 16.6-kb mitochondrial genome, with only 37 genes, and the nuclear genome, which encodes the remaining ∼1300 proteins of the mitoproteome. Mitochondrial dysfunc...

Introduction: Polycystic Ovary Syndrome (PCOS) is one of the most common causes of female infertility. The etiology of this condition is complex. Various genetic and environmental factors have been identified in the pathogenesis of PCOS. The prevalence of this syndrome among Iranian females has been reported between 7.1% to 14.6%. Common symptoms include irregular menstruation, infertility, ova...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2014
Tammy T Nguyen Sang S Oh David Weaver Agnieszka Lewandowska Dane Maxfield Max-Hinderk Schuler Nathan K Smith Jane Macfarlane Gerald Saunders Cheryl A Palmer Valentina Debattisti Takumi Koshiba Stefan Pulst Eva L Feldman György Hajnóczky Janet M Shaw

Defective mitochondrial distribution in neurons is proposed to cause ATP depletion and calcium-buffering deficiencies that compromise cell function. However, it is unclear whether aberrant mitochondrial motility and distribution alone are sufficient to cause neurological disease. Calcium-binding mitochondrial Rho (Miro) GTPases attach mitochondria to motor proteins for anterograde and retrograd...

2014
Jana Hroudová Namrata Singh Zdeněk Fišar

Mitochondrial dysfunctions are supposed to be responsible for many neurodegenerative diseases dominating in Alzheimer's disease (AD), Parkinson's disease (PD), and Huntington's disease (HD). A growing body of evidence suggests that defects in mitochondrial metabolism and particularly of electron transport chain may play a role in pathogenesis of AD. Structurally and functionally damaged mitocho...

2016
Marni J. Falk Lishuang Shen Xiaowu Gai

Mitochondrial disease is now recognized to represent a highly heterogeneous group of genetic disorders that impair energy metabolism and can potentially involve every organ system, with more than 250 causative genes already confirmed across both the nuclear and mitochondrial genomes (Koopman et al. 2012). Novel variants in a recently recognized nuclear disease gene are reported in this issue to...

بابایی, حشمت االله, عشقی, غلامرضا, فقانی, حسن ,

Introduction: Various inherited or acquired disorders are characterized by palmoplantar kera-toderma hyperkeratosis of hands and feet, and when accompanied with deafness indicates mutations in the gene encoding connexin -26 or a particular mutation (A7445G) of the mito-chondrial t-RNA coded for serine (MT-TS1) is created. Case Report: On skin examination of a 7 year old boy, we observed hyper...

Journal: :iranian journal of pharmaceutical research 0
parvaneh naserzadeh department of pharmaceutical sciences, islamic azad university, tehran, iran. mir-jamal hosseini department of pharmacology and toxicology, school of pharmacy, zanjan university of medical sciences, zanjan, iran sepideh arbabi department of pharmaceutical sciences, islamic azad university, tehran, iran. jalal pourahmad -

previous studies demonstrated that cse induces oxidative stress and its consequences on isolated mitochondria obtained from lung, heart and brain which may provide insight into the role of cse in human health and disease. the present study was carried out to further characterize and compare toxic effect of cse extract on isolated mitochondria obtained from either a directly contacting tissue (i...

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