نتایج جستجو برای: mitochondrial disorder

تعداد نتایج: 719698  

Adele Jafari, Afsaneh Eliassi, Javad Fahanik-babaei, Reza Saghiri,

Introduction: Alzheimer’s disease is a progressive neurodegenerative disorder, characterized by impairment of memory and changes in behavior and personality. Recent evidence suggests that mitochondrial channels play important roles in memory disorders. Accordingly, the biophysical properties of a single potassium channel were investigated in the brain mitochondrial inner membrane of rat with...

2017
Ewen W. Sommerville Charlotte L. Alston Angela Pyle Langping He Gavin Falkous Karen Naismith Patrick F. Chinnery Robert McFarland Robert W. Taylor

OBJECTIVE To determine the genetic etiology of a young woman presenting an early-onset, progressive neurodegenerative disorder with evidence of decreased mitochondrial complex I and IV activities in skeletal muscle suggestive of a mitochondrial disorder. METHODS A case report including diagnostic workup, whole-exome sequencing of the affected patient, filtering, and prioritization of candidat...

2017
Feixiao Xue Cai Shi Qingjie Chen Weijian Hang Liangtao Xia Yue Wu Sophia Z. Tao Jie Zhou Anbing Shi Juan Chen

Kainic acid (KA)-induced neuronal death is linked to mitochondrial dysfunction and ER stress. Melatonin is known to protect hippocampal neurons from KA-induced apoptosis, but the exact mechanisms underlying melatonin protective effects against neuronal mitochondria disorder and ER stress remain uncertain. In this study, we investigated the sheltering roles of melatonin during KA-induced apoptos...

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: :Korean journal of otorhinolaryngology-head and neck surgery 2023

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder. MELAS manifests different clinical symptoms due to heteroplasmy individual susceptibility tends be aggravated by metabolic events. It presents various manifestations including hearing impairment, diabetes mellitus, stroke like episodes. However, date, only f...

Journal: :AJNR. American journal of neuroradiology 2014
D G Kondo T L Hellem X-F Shi Y H Sung A P Prescot T S Kim R S Huber L N Forrest P F Renshaw

Pediatric bipolar disorder is a severe mental illness whose pathophysiology is poorly understood and for which there is an urgent need for improved diagnosis and treatment. MR spectroscopy is a neuroimaging method capable of in vivo measurement of neurochemicals relevant to bipolar disorder neurobiology. MR spectroscopy studies of adult bipolar disorder provide consistent evidence for alteratio...

Journal: :Annals of medicine 2008
Ling Shao Maureen V Martin Stanley J Watson Alan Schatzberg Huda Akil Richard M Myers Edward G Jones William E Bunney Marquis P Vawter

Recent findings of mitochondrial abnormalities in brains from subjects with neurological disorders have led to a renewed search for mitochondrial abnormalities in psychiatric disorders. A growing body of evidence suggests that there is mitochondrial dysfunction in schizophrenia, bipolar disorder, and major depressive disorder, including evidence from electron microscopy, imaging, gene expressio...

Journal: :Journal of Student Research 2021

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