Current Opinion in Pediatrics 2008, 20:471–482 Purpose of review Mitochondrial diseases are a major category of childhood illness that produce a wide variety of symptoms and multisystemic disorders. This review highlights recent clinically important developments in diagnostic evaluation and treatment of mitochondrial diseases. Recent findings Major advances have been made in understanding the g...

background: mitochondria are autonomous cellular organelles that oversee a variety of functions such as metabolism, energy production, calcium buffering, and cell fate determination. most recently, mitochondrial dysfunction caused by mitochondrial mutations played important roles in the pathogenesis of asthma. however, the frequency of mitochondrial trna mutations in asthma is largely unknown. ...

Parkinson's disease (PD), the most prevalent neurodegenerative movement disorder, is characterized by an age-dependent selective loss of dopaminergic (DA) neurons. Although most PD cases are sporadic, more than 20 responsible genes in familial cases were identified recently. Genetic studies using Drosophila models demonstrate that PINK1, a mitochondrial kinase encoded by a PD-linked gene PINK1,...

Mitochondrial fission and selective mitochondrial autophagy (mitophagy) form an essential axis of mitochondrial quality control that plays a critical role in the development of cardiac ischemia-reperfusion (IR) injury. However, the precise upstream molecular mechanism of fission/mitophagy remains unclear. Dual-specificity protein phosphatase1 (DUSP1) regulates cardiac metabolism, but its physio...

Treatment for mitochondrial dysfunction is typically guided by expert opinion with a paucity of empirical evidence of the effect of treatment on mitochondrial activity. We examined citrate synthase and Complex I and IV activities using a validated buccal swab method in 127 children with autism spectrum disorder with and without mitochondrial disease, a portion of which were on common mitochondr...

discussion this is the first iranian 3-oxothiolase deficiency case report as searched in the literature. because of the high rate of consanguineous marriages in iran, physicians should consider the 3-oxothiolase deficiency in the differential diagnosis of any patient with intractable vomiting and severe metabolic acidosis. case presentation this is a case report of 3-oxothiolase deficiency in a...

Pioglitazone (PG) is one of thiazolidinediones used for the treatment of type II diabetes mellitus. Some reports of its hepatotoxicity exist, but the mechanism of its hepatotoxicity is not well known. In the present study, the protective effect of some ATP suppliers are investigated against mitochondrial toxicity of PG in isolated rat mitochondria. Mitochondrial viability was investigated by MT...

In emergency and critical care medicine, lung ischemia-reperfusion injury is a prevalent disorder, which has significant morbidity mortality. However, there still lack of effective means to block the injury. Established model mice; histological analysis scoring were helpful assess pathological in tissue; using an enzymelinked immunosorbent assay kit, expressed interleukin-6 interleukin-1 bronch...

Twin brothers and their maternal uncle with a previously undescribed neonatal progeroid syndrome are presented. In addition to progeroid features, they had pseudo-obstruction of the urinary and gastrointestinal tracts, severe leucocytosis, liver dysfunction, and low complex III and IV in muscle but not in liver. Previously described neonatal progeroid syndromes and syndromes featuring pseudo-ob...