Mitochondrial cytopathy

04/01/2001 - "The absence of ragged-red fibers does not exclude the diagnosis of a mitochondrial cytopathy and other investigations are justified such as the biochemical study of the respiratory chain and the molecular analysis of mitochondrial DNA."
06/01/2010 - "A single large deletion in mitochondrial DNA and characteristic histochemical features on muscle biopsy suggested a mitochondrial cytopathy. "
10/18/2006 - "Cellular target of NRTI was identified as the mitochondrial polymerase-gamma and their toxicity described as a mitochondrial DNA (mtDNA) depletion resulting in a mitochondrial cytopathy and involved in fat redistribution. "
11/15/2002 - "A 21-year-old woman who has been suspected of mitochondrial cytopathy, but negative for common mitochondrial DNA (mtDNA) point mutations and deletions, was screened for unknown mutations in the entire mitochondrial genome by temporal temperature gradient gel electrophoresis (TTGE). "
10/01/2002 - "Five patients had abundant large-scale mitochondrial DNA deletions and one patient displayed a pathogenic point mutation previously reported with mitochondrial cytopathy. "

07/01/2012 - "Cytochrome oxidase-negative fibres and true 'ragged-red' fibres were found at all ages over 40 years at levels that approach those used for diagnosis of mitochondrial cytopathy in peripheral or limb skeletal muscles. "
08/01/2012 - "Two patients who required a long-term trial of the diet therapy respectively due to Leigh's syndrome and uncategorized mitochondrial cytopathy derived from cytochrome c oxidase defect, respectively, successfully maintained the diet treatment without any significant complications. "
10/01/1995 - "Her muscle biopsy revealed decreased activity of cytochrome c oxidase, suggesting that histiocytoid cardiomyopathy is related to mitochondrial cytopathy."
01/01/1992 - "We report the case of a 5-year-old boy with mitochondrial cytopathy due to a partial deficiency of cytochrome c oxidase who had isolated proximal renal tubular acidosis and hypercalciuria. "
08/01/1991 - "Affinity chromatography isolation of human cytochrome oxidase and small-scale Western immunoblot probing of the enzyme complex in mitochondrial cytopathy patients."

11/01/2010 - "Thirty patients with mitochondrial cytopathy received 1200 mg/day CoQ(10) for 60 days in a randomized, double-blind, cross-over trial. "
04/01/1989 - "The findings establish CoQ10 deficiency as a cause of a familial mitochondrial cytopathy and suggest that the disease results from a tissue-specific defect of CoQ10 biosynthesis."

03/01/1989 - "In vivo proton and phosphorus magnetic resonance spectroscopy (MRS) studies were performed at 1.5 T on two patients (siblings) diagnosed as having a mitochondrial cytopathy. "

03/01/1989 - "In vivo proton and phosphorus magnetic resonance spectroscopy (MRS) studies were performed at 1.5 T on two patients (siblings) diagnosed as having a mitochondrial cytopathy. "

02/01/2001 - "Fatal infantile mitochondrial cytopathy associated with a C3303T mutation in the mitochondrial tRNA(Leu(UuR)) gene has been reported clinically, biochemically and genetically. "
05/01/2012 - "Though the molecular pathogenesis of an A3243G or T3271C mutation of mitochondrial tRNA(Leu(UUR)) gene has been clarified as a mitochondrial cytopathy, the underlying mechanisms of stroke-like episodes in MELAS are not completely understood. "
04/24/1996 - "This pedigree expands the known clinical phenotype associated with tRNA(Leu(UUR)) A-->G mutation and raises the possibility that, in some cases, diabetic embryopathy may be due to a mitochondrial cytopathy that affects both the mother's pancreas (and results in diabetes mellitus and the metabolic dysfunction associated with it) and the embryonic/fetal and placental tissues which make the embryo more vulnerable to this insult."
08/01/2004 - "The point mutation A --> G at position 3243 in the mitochondrial tRNAleu(UUR) gene is the cause of several distinct types of mitochondrial cytopathy and several clinical phenotypes, including encephalomyopathy with lactic acidosis and stroke-like episodes and maternally inherited diabetes and deafness. "
01/01/2010 - "We diagnosed the patient as having a mitochondrial cytopathy resulting from the 3243A>G mutation on the tRNA(Leu(UUR)) gene in the mitochondrial DNA. "

09/01/2004 - "Enzyme analysis of individual OXPHOS complexes in a skeletal muscle biopsy remains the mainstay of the diagnostic process for patients suspected of mitochondrial cytopathy. "
01/01/2003 - "Enzyme analysis of individual OXPHOS complexes in a skeletal muscle biopsy remains the mainstay of the diagnostic process for patients suspected of mitochondrial cytopathy. "
11/01/2002 - "The diagnosis of mitochondrial cytopathy was made on the basis of spectrophotometric measurements of respiratory chain enzyme activities in skeletal muscle biopsy specimens. "
09/30/1996 - "In order to improve the determination of the activities of the enzyme complexes of the electron transport chain (ETC) in fibroblasts, we characterized the isolation of mitochondria and measured enzyme activities in mitochondrial preparations from fibroblasts of control subjects and patients with suspected mitochondrial cytopathy. "
06/01/1994 - "The diagnosis of mitochondrial cytopathy was established on Southern blotting of mt DNA, showing a mt DNA deletion, or on the impairment of the respiratory chain enzyme activities. "

06/16/2001 - "No conclusive data of mitochondrial cytopathy, in the form of significant morphological changes, biochemistry of the mitochondrial respiratory chain or micochondrial DNA were found. "
12/01/2012 - "There has been considerable progress during the past 24 years in the molecular genetics of mitochondrial DNA and related nuclear DNA mutations, and more than 100 nerve biopsies from hereditary neuropathies related to mitochondrial cytopathy have been accurately examined. "
12/01/2004 - "Although clinical, laboratory, histological and biochemical analyses did not give any hints suggesting a mitochondrial cytopathy, molecular genetic testing of total DNA from skeletal muscle tissue by Southern blot analysis finally revealed a 3.8 kb mitochondrial DNA deletion with a degree of heteroplasmy of 45 %. "
04/24/1996 - "Because her mother and sister later developed classical mitochondrial cytopathy associated with the A-G point mutation at nucleotide position (np) 3243 of mitochondrial (mt) DNA, we performed a molecular analysis of mt DNA in preserved kidney tissue from the VACTERL case. "
06/01/1994 - "The diagnosis of mitochondrial cytopathy was established on Southern blotting of mt DNA, showing a mt DNA deletion, or on the impairment of the respiratory chain enzyme activities. "

06/01/1996 - "Additional findings, particularly elevation of CSF lactate, suggested mitochondrial cytopathy as an essential feature of the multisystem degeneration in these patients."
02/01/2004 - "Metabolic investigations revealed hyperlactacidaemia and an increased lactate/pyruvate ratio during fasting and feeding, suggesting a mitochondrial cytopathy. "
10/22/1994 - "In patients with unexplained cardiomyopathy, the diagnosis of mitochondrial cytopathy should be entertained if oxidoreduction potentials (lactate/pyruvate ratio) are perturbed. "
01/01/1998 - "Though her only neurological disorder was mild hearing loss, her short stature and elevated lactate and pyruvate values in cerebrospinal fluid suggested mitochondrial cytopathy. "
06/16/2009 - "To investigate the expression of PDCDS, Caspase-3, Bcl-2 and Bax in skeletal muscle of patients with mitochondrial encephalomyopathies with lactate acidosis and stroke like episodes (MELAS), limb-girdle type mitochondrial myopathy (LGMM) and chronic progressive external ophthalmoplegia (CPEO), and to explore the correlation between apoptosis and the pathogenesis of mitochondrial cytopathy. "

02/01/2004 - "Metabolic investigations revealed hyperlactacidaemia and an increased lactate/pyruvate ratio during fasting and feeding, suggesting a mitochondrial cytopathy. "
10/22/1994 - "In patients with unexplained cardiomyopathy, the diagnosis of mitochondrial cytopathy should be entertained if oxidoreduction potentials (lactate/pyruvate ratio) are perturbed. "
01/01/1998 - "Though her only neurological disorder was mild hearing loss, her short stature and elevated lactate and pyruvate values in cerebrospinal fluid suggested mitochondrial cytopathy. "
05/01/2001 - "We studied 6 ambulatory patients with mitochondrial cytopathy and 6 controls without mitochondrial disease using a subcutaneous probe for continuous microdialysis, and obtained measurements of lactate, pyruvate, and glucose from samples gathered at 30-60 min intervals during the day and at 3-h intervals at night. "

08/01/2012 - "Two patients who required a long-term trial of the diet therapy respectively due to Leigh's syndrome and uncategorized mitochondrial cytopathy derived from cytochrome c oxidase defect, respectively, successfully maintained the diet treatment without any significant complications. "

06/01/2005 - "Mitochondrial cytopathy is a multisystemic disease that requires different pharmacological and specialist approaches; although most therapies are usually of scarce effectiveness. "
01/01/2004 - "Long-term growth hormone therapy in mitochondrial cytopathy."
05/01/2012 - "This review aims to give an overview on the actual knowledge about the pathogenic mechanism of mitochondrial cytopathy at the molecular levels, the possible pathogenic mechanism of mitochondrial angiopathy to cause stroke-like episodes at the clinical and pathophysiological levels, and the proposed site of action of l-arginine therapy on MELAS. "

04/01/1998 - "Generalised mitochondrial cytopathy is an absolute contraindication to orthotopic liver transplant in childhood."
02/01/2008 - "Renal Fanconi syndrome and myopathy after liver transplantation: drug-related mitochondrial cytopathy?"

11/01/2005 - "Two patients are presented with initially undetermined multisystem neurological disorders and excessive sialorrhoea, later diagnosed as mitochondrial cytopathy, who had side effects after treatment with ultrasound guided BTXA injections. "
03/01/2007 - "Yet a muscle biopsy showed clear evidence of a mitochondrial cytopathy, and the clinical features did not improve after treatment with prednisone. "

12/01/2004 - "In patients with unexplained binocular diplopia , oculomotor deficits and/or acquired ptosis, an underlying mitochondrial cytopathy should be considered. "