pantothenate kinase- associated neurodegeneration (pkan) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. it has been shown that the disorder is caused by mutations in pank2 gene which codes for a mitochondrial enzyme participating in coenzyme a biosynthe...

objective(s) the mitochondrial defects in friedreich's ataxia have been reported in many researches. mitochondrial dna is one of the candidates for defects in mitochondrion, and complex i is the first and one of the largest catalytic complexes of oxidative phosphorylation (oxphos) system. materials and methods we searched the mitochondrial nd4l gene for mutations by ttge and sequencing on ...

Bipolar disorder is a biphasic state of energy dysregulation as circadian rithms. Phasic nature of mitochondria to produce ATP may be crucial to the switching of affective states in bipolar disorder. Allostatic load of oxidative stress and mitochondrial gene variations have a detrimental effect on mitochondrial function in bipolar patients [1]. Functional polymorphism in the mitochondrial DNA w...

Objective(s) The mitochondrial defects in Friedreich's ataxia have been reported in many researches. Mitochondrial DNA is one of the candidates for defects in mitochondrion, and complex I is the first and one of the largest catalytic complexes of oxidative phosphorylation (OXPHOS) system. Materials and Methods We searched the mitochondrial ND4L gene for mutations by TTGE and sequencing on 30...

Background and Objective: Alzheimer’s disease (AD) is a neurodegenerative disorder which is associated with extracellular accumulation of amyloid beta (Aβ) plaques. AD is accompanied by mitochondrial dysfunction and energy metabolism reduction. Fibroblast growth factor 21 (FGF21) is an endogenous polypeptide which its beneficial effects have been demonstrated on mitochondrial function, energy m...

Beta-adrenergic blocking agents or beta-blockers are a class of medications used to treat cardiac arrhythmias and systemic hypertension. In therapeutic dosages, they have known adverse outcomes that can include muscular fatigue and cramping, dizziness, and dyspnea. In patients with mitochondrial disease, these effects can be amplified. Previous case reports have been published in the adult popu...