Chronic progressive external ophthalmoplegia is a mitochondrial disorder usually caused by single or multiple mitochondrial DNA (mtDNA) deletions and, more rarely, by maternally inherited mtDNA point mutations, most frequently in tRNA genes (MTT). We report on a patient presenting with a progressive eyelid ptosis with bilateral ophthalmoparesis, dysphagia, dysphonia and mild proximal limb weakn...

BACKGROUND Mitochondrial cytochrome c oxidase 2, MT-CO2, encodes one of the three subunits, which form the catalytic core of cytochrome c oxidase (COX), complex IV. Mutations in MT-CO2 are rare and the associated phenotypes are variable including nonsyndromic and syndromic forms of mitochondrial diseases. CASE PRESENTATION We describe a 30-year-old man with cognitive decline, epilepsy, psycho...

Mitochondrial disease enters the differential diagnosis of a wide range of CNS and PNS presentations. Respiratory chain ATP production is under bigenomic genetic control. Adult mitochondrial diseases are mainly caused by mutations in mitochondrial DNA (mtDNA), and nuclear gene defects usually present with more severe childhood phenotypes. Recently, mutations in certain nuclear genes--for exampl...

Autism spectrum disorder (ASD) affects a significant number of individuals worldwide with the prevalence continuing to grow. It is becoming clear that a large subgroup of individuals with ASD demonstrate abnormalities in mitochondrial function as well as gastrointestinal (GI) symptoms. Interestingly, GI disturbances are common in individuals with mitochondrial disorders and have been reported t...

objective(s): as mitochondrial oxidative stress is probably entailed in atp production, a candidate modifier factor for the long qt syndrome (lqts) could be mitochondrial dna (mtdna). it has been notified that ion channels' activities in cardiomyocytes are sensitive to the atp level. materials and methods: the sample of the research was an iranian family with lqts for mutations by pcr-sscp...

considerable evidence suggests that mitochondrial dysfunction contributes to the toxicity of uranyl acetate (ua), a soluble salt of depleted uranium (du). we examined the ability of the two antioxidants, beta-glucan and butylated hydroxyl toluene (bht), to prevent ua-induced mitochondrial dysfunction using rat-isolated kidney mitochondria. beta-glucan (150 nm) and bht (20 nm) attenuated ua-indu...

Introduction: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) can involve multiple systems and cause stroke-like episodes and status epilepticus. Case Presentation: A 48-year-old female with history of early fatigability, migraine-type headaches, and bilateral sensory-neural hearing loss presented 3 episodes of serial seizures. On admission she was affected by W...

Kearns-Sayre syndrome (KSS) is a rare mitochondrial disorder, and the effects of radiotherapy on such population group are unknown. A 60-year-old male with history KSS was diagnosed locally advanced basal cell carcinoma along left inner canthus. He treated at our institution curative intent alone tolerated it well no major acute or late toxicities. There complete clinical radiological response ...

Schizophrenia is a complex neuropsychiatric disorder with both neurochemical and neurodevelopmental components in the pathogenesis. Growing pieces of evidence indicate that schizophrenia has pathological components that can be attributable to the abnormalities of mitochondrial function, which is supported by the recent finding suggesting mitochondrial roles for Disrupted-in-Schizophrenia 1 (DIS...

Mitochondrial disorders (MD) are a heterogeneous group of genetic disorders that impair mitochondrial integrity and result in deficient energy production. The disorder has an incidence of 1:5000 live births [1], and affects tissues with high-energy requirements such as the central nervous system, retina, heart and muscle [2]. Consequently, these patients have multiple comorbidities that include...