نتایج جستجو برای: mitochondrial disorder

تعداد نتایج: 719698  

2017
Stephen Benedict Walsh Robert Unwin Robert Kleta William Van't Hoff Paul Bass Khalid Hussain Sian Ellard Detlef Bockenhauer

BACKGROUND Rare diseases may elude diagnosis due to unfamiliarity of the treating physicians with the specific disorder. Yet, advances in genetics have tremendously enhanced our ability to establish specific and sometimes surprising diagnoses. CASE PRESENTATION We report a case of renal Fanconi syndrome associated with intermittent hypoglycemic episodes, the specific cause for which remained ...

Journal: :Schizophrenia Research 2017
Tadafumi Kato

Bipolar disorder is one of two major psychotic disorders together with schizophrenia and causes severe psychosocial disturbance. Lack of adequate animal models hampers development of new mood stabilizers. We proposed a mitochondrial dysfunction hypothesis and have been studying the neurobiology of bipolar disorder based on this hypothesis. We showed that deletions of mitochondrial DNA (ΔmtDNA) ...

Journal: :Archives of neurology 2010
Tim M Young Emma L Blakely Helen Swalwell Janet E Carter Luke D Kartsounis Dominic G O'Donovan Douglass M Turnbull Robert W Taylor Rajith N de Silva

BACKGROUND Mitochondrial diseases are characterized by wide phenotypic and genetic variability, but presentations in adults with akinetic rigidity and hyperkinetic movement disorders are rare. OBJECTIVES To describe clinically a subject with progressive neurodegeneration characterized by psychosis, dementia, and akinesia-rigidity, and to associate this phenotype with a novel mitochondrial tra...

Journal: :Human molecular genetics 2005
Kazuya Iwamoto Miki Bundo Tadafumi Kato

Accumulating evidence suggests that mitochondrial dysfunction underlies the pathophysiology of bipolar disorder (BD) and schizophrenia (SZ). We performed large-scale DNA microarray analysis of postmortem brains of patients with BD or SZ, and examined expression patterns of mitochondria-related genes. We found a global down-regulation of mitochondrial genes, such as those encoding respiratory ch...

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