A 21 year old male ingested podophyllin in a suicide attempt. The disorder was marked by seizures, coma, peripheral neuropathy, renal failure and acute necrotizing myopathy, an unusual finding. The coma and systemic disturbances resolved within three weeks. The myopathy resolved in 7 weeks, demonstrating a high capacity of muscle recuperation. The sensorimotor peripheral neuropathy persisted un...

mitochondria play an important role in energy production for the cell. the proper function of a myocardial cell largely depends on the functional capacity of the mitochondria.  therefore it is necessary to establish a novel and reliable method for a non-invasive assessment of mitochondrial function and metabolism in humans. although originally designed for evaluating myocardial perfusion, 99mtc...

The authors describe a family (mother, son and two daughters) with mitochondrial myopathy. The mother was asymptomatic. Two daughters had lactic acidosis and myoclonic epilepsy, mild dementia, ataxia, weakness and sensory neuropathy. The son suffered one acute hemiplegic episode due to an ischemic infarct in the right temporal region. All the patients studied had hypertension. EEG disclosed pho...

The molecular diagnosis of mitochondrial disorders still remains elusive in a large proportion of patients, but advances in next generation sequencing are significantly improving our chances to detect mutations even in sporadic patients. Syndromes associated with mitochondrial DNA multiple deletions are caused by different molecular defects resulting in a wide spectrum of predominantly adult-on...

In this study, 154 pectoralis major breast muscles from three chicken age groups were separated into different severity levels of wooden condition by manual palpation to investigate the changes lipid and protein oxidation citrate synthase activity. TBARS values, carbonyl contents loss free thiol greater (P < 0.05) in superficial (ventral) part severe samples, whereas no clear change was found d...

OBJECTIVE To analyse muscle respiratory chain enzymes in idiopathic inflammatory myopathy. METHODS Four consecutive female patients seen at our hospital with idiopathic inflammatory myopathy were studied. Muscle histochemical staining included NADH tetrazolium reductase and succinate dehydrogenase tests. Activity of rotenone sensitive NADH cytochrome c reductase (complex I and III) succinate ...

Collagen VI is an extracellular matrix protein expressed in several tissues including skeletal muscle. Mutations in COL6A genes cause Bethlem Myopathy (BM), Ullrich Congenital Muscular Dystrophy (UCMD) and Myosclerosis Myopathy (MM). Collagen VI deficiency causes increased opening of the mitochondrial permeability transition pore (mPTP), leading to ultrastructural and functional alterations of ...

Missense mutations of valosin-containing protein (VCP) cause an autosomal dominant disease known as inclusion body myopathy, Paget disease with frontotemporal dementia (IBMPFD) and other neurodegenerative disorders. The pathological mechanism of IBMPFD is not clear and there is no treatment. We show that endogenous VCP negatively regulates Mitofusin, which is required for outer mitochondrial me...

A variety of human diseases, including Friedrich ataxia and mitochondrial myopathy with exercise intolerance, are caused by mutations in the proteins required in iron-sulfur cluster biogenesis. For example, the cause of mitochondrial myopathy with exercise intolerance was recently identified as a G C splice mutation in the gene encoding ISCU, a scaffold protein required in iron-sulfur cluster b...

The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS) is a rare congenital disorder of mitochondrial DNA (mtDNA). Herein we report a case of MELAS, whose second stroke-like episode was provoked by chickenpox. A point mutation at nucleotide (nt) 3243 in mtDNA supported the diagnosis of MELAS in this case. History of myopathy, the presence of lesio...