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Mitochondrial Myopathies (Mitochondrial Myopathy)

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A group of muscle diseases associated with abnormal mitochondria function.

Also Known As:

Mitochondrial Myopathy; Myopathy, Mitochondrial; Luft Disease; Luft's Disease; Megaconial Myopathies; Pleoconial Myopathies; Disease, Luft; Disease, Luft's; Lufts Disease; Megaconial Myopathy; Myopathies, Pleoconial; Myopathy, Megaconial; Myopathy, Pleoconial; Pleoconial Myopathy; Myopathies, Mitochondrial

Networked: 789 relevant articles (21 outcomes, 67 trials/studies)

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Disease Context: Research Results

Related Diseases

1.	Lactic Acidosis
2.	Stroke (Strokes)
3.	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
4.	Muscular Dystrophies (Muscular Dystrophy)
5.	Kearns-Sayre Syndrome

Experts

1.	DiMauro, Salvatore: 13 articles (11/2012 - 11/2002)
2.	Mancuso, Michelangelo: 10 articles (11/2014 - 05/2003)
3.	Vissing, John: 8 articles (01/2015 - 05/2002)
4.	Taylor, Robert W: 8 articles (12/2013 - 10/2002)
5.	Turnbull, Douglass M: 8 articles (12/2006 - 10/2002)
6.	Oldfors, Anders: 7 articles (06/2013 - 11/2002)
7.	Bresolin, Nereo: 7 articles (02/2013 - 12/2003)
8.	Zeviani, Massimo: 6 articles (07/2015 - 10/2003)
9.	Chinnery, Patrick F: 6 articles (10/2010 - 10/2003)
10.	DiMauro, S: 6 articles (10/2010 - 06/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mitochondrial Myopathies:

1.	Mitochondrial DNA (mtDNA)IBA 03/16/1990 - "Marked decrease of mitochondrial DNA with multiple deletions in a patient with familial mitochondrial myopathy." 12/01/2006 - "Exercise intolerance is a prominent symptom in patients with mitochondrial myopathy (MM), but it is still unsettled whether exercise training is safe and beneficial for patients with MM. To address this, we studied the effect of 12 weeks cycle training on exercise capacity, quality of life and underlying molecular and cellular events in five patients with single large-scale deletions, one with a microdeletion and 14 with point mutations of mitochondrial DNA (mtDNA), and 13 healthy subjects. " 02/28/2012 - "In this study we aim to demonstrate the occurrence of adult forms of TK2 mutations causing progressive mitochondrial myopathy with significant muscle mitochondrial DNA (mtDNA) depletion. " 05/01/2004 - "Previous studies have shown that transfer of human myoblasts carrying a mitochondrial DNA mutation into muscles of the severe combined immunodeficient mouse may provide an important animal model for mitochondrial myopathy. " 07/01/2003 - "The purpose of this study was to investigate the correlation between the level of mutated mitochondrial DNA in muscle and oxidative capacity in 24 patients with mitochondrial myopathy (MM). "
2.	coenzyme Q10 (CoQ10)IBA 10/01/2010 - "Therapeutic trials of exercise training and coenzyme Q10 supplementation should continue to be offered to patients with mitochondrial myopathies pending the results of evaluation in randomized clinical trials. " 01/01/1991 - "Fourty four patients with mitochondrial myopathies were treated with Ubidecarenone (CoQ10) for six months in an open multicentric trial. " 12/01/1990 - "Forty-four patients with mitochondrial myopathies were treated with Ubidecarenone (CoQ10) for 6 months in an open multi-center trial. " 12/01/1990 - "Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial." 03/01/2010 - "In the field of mitochondrial myopathies, primary CoQ(10) deficiencies have been identified, involving different genes of the CoQ(10) biosynthetic pathway; some of these conditions were found to be highly responsive to CoQ(10) administration. "
3.	Lactic Acid FDA LinkGeneric 01/01/2000 - "The lactate-stress test complements electrophysiological and bioptical findings and proved to be helpful in diagnosing mitochondrial myopathy." 08/14/1998 - "In conclusion, the lactate stress test proved to be helpful for evaluating the integrity of the oxidative metabolism in the majority of patients with mitochondrial myopathy." 12/01/2004 - "As it is under debate if determination of lactate during cycle ergometry (lactate stress testing, LST) under a continuous, unadjusted, low workload is a valuable diagnostic tool for mitochondrial myopathy (MMP), the present study aimed to investigate how sensitive the LST is in a large cohort of patients with indications for MMP (MMP patients). " 10/01/1999 - "The study shows that the abnormal lactate production in mitochondrial myopathies is independent of the catecholaminergic response at the transition from aerobic to anaerobic exercise." 08/14/1998 - "The aim of the study was to determine the sensitivity and specificity of the lactate stress test in the detection of mitochondrial myopathies. "
4.	Carnitine (L-Carnitine)FDA LinkGeneric 01/01/2002 - "The purpose of this study was to determine the plasmatic concentrations of the carnitine and its metabolites in patients with neuromuscular pathologies within the group of mitochondrial myopathies by the comparison with a control group. " 04/01/2015 - "Effect of L-carnitine on exercise performance in patients with mitochondrial myopathy." 07/01/2008 - "Clinical improvement on oral levo-carnitine therapy suggests the possibility of carnitine deficiency as the most likely etiology in two of the patients and one had mitochondrial myopathy confirmed on genetic analysis." 07/01/1993 - "Therefore, carnitine deficiency can be found in patients with mitochondrial myopathy even in the absence of LSM. " 07/01/1993 - "Abnormal carnitine distribution in muscle was found in 22 of 77 patients (29%), with mitochondrial myopathy. "
5.	nicotinamide-beta-ribosideIBA 06/01/2014 - "In this issue of EMBO Molecular Medicine, Khan et al (2014) use a mouse model to test the efficacy of a simple dietary supplement of nicotinamide riboside to treat and prevent mitochondrial myopathies." 06/01/2014 - "Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3."
6.	UbiquinoneIBA 06/01/1992 - "31P NMR spectroscopy and ergometer exercise test as evidence for muscle oxidative performance improvement with coenzyme Q in mitochondrial myopathies." 03/01/1990 - "Recently, several studies were published on therapy with coenzyme Q (CoQ) in patients with mitochondrial myopathies without biochemically established muscular deficiency of CoQ. " 01/01/2004 - "This paper sought to investigate the relationship among statin-induced myopathy, mitochondrial function, and muscle ubiquinone levels. " 03/01/1990 - "Exogenous coenzyme Q (coq) fails to increase coq in skeletal muscle of two patients with mitochondrial myopathies." 07/01/2004 - "This paper describes a case of mitochondrial myopathy, encephalopathy, lactic acidosis, strokelike episodes, and exercise intolerance successfully treated with coenzyme Q 10. "
7.	Pyruvic Acid (Pyruvate)IBA 11/01/2012 - "Pyruvate treatment was found to alleviate clinical symptoms of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome and is highly promising therapeutic. " 05/01/2002 - "This study evaluated lactate disposal via gluconeogenesis as well as effects of FFA availability on gluconeogenesis via pyruvate (GNG(PYR)) in patients with mitochondrial myopathy due to complex I deficiency (CID). " 06/01/1998 - "The venous lactate/pyruvate (L/P) ratio proved to be the one clinically most useful parameter in the functional diagnosis of mitochondrial myopathies with pathological exercise values in all nine examined patients. " 05/01/1995 - "MELAS is a type of the mitochondrial myopathy characterized by elevation of pyruvate and lactate levels in both the blood and cerebrospinal fluid. " 09/01/1989 - "[Lactate and pyruvate blood levels in the diagnosis of mitochondrial myopathies]."
8.	Dichloroacetate (Dichloroacetic Acid)IBA 12/01/1997 - "Exciting new work suggests that carefully supervised physical conditioning in conjunction with sodium dichloroacetate administration can markedly enhance both biochemical measures of aerobic metabolism and functional performance of patients with mitochondrial myopathies." 08/01/1996 - "In this study, we measured responses to combined aerobic training and oral dichloroacetate (DCA) therapy in a 25-year-old woman with a mitochondrial myopathy caused by cytochrome oxidase deficiency. " 06/01/1998 - "Sodium dichloroacetate has been used to treat patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). " 02/01/1998 - "We present the clinical and laboratory effects of dichloroacetate (DCA) in three children with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) who had not responded to other medications. " 02/14/2006 - "To evaluate the efficacy of dichloroacetate (DCA) in the treatment of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). "
9.	BezafibrateIBA 02/01/2012 - "However, as bezafibrate has been tolerated well by humans, the beneficial muscle findings in Deletor mice support consideration of bezafibrate trials on adult patients with mitochondrial myopathy." 02/01/2012 - "Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice." 02/01/2012 - "We asked whether bezafibrate affected disease progression in late-onset adult-type mitochondrial myopathy mice. " 10/01/2010 - "Three therapeutic strategies look promising: (i) allogeneic hematopoietic stem cell transplantation in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy); (ii) bezafibrate, an activator of PGC-1alpha, has proven effective in animal models of mitochondrial myopathy; and (iii) pronucleus transfer into a normal oocyte is effective in eliminating maternal transmission of mtDNA, thus preventing the appearance of mtDNA-related disorders."
10.	NAD (NADH)IBA 06/01/2014 - "These results indicate that NR and strategies boosting NAD(+) levels are a promising treatment strategy for mitochondrial myopathy." 06/01/2014 - "Salvaging hope: Is increasing NAD(+) a key to treating mitochondrial myopathy?" 01/01/1984 - "Mitochondrial myopathy with partial cytochrome oxidase deficiency and impaired oxidation of NADH-linked substrates." 06/01/2003 - "Although ragged red fibres had not been found, mitochondrial enzyme activities were markedly decreased with the lowest residual activity detected for NADH:Q1 oxidoreductase and NADH:O2 oxidoreductase (complex I deficiency), thereby confirming the diagnosis of mitochondrial myopathy. " 12/01/1983 - "Mitochondrial myopathy and encephalopathy: three cases--a deficiency of NADH-CoQ dehydrogenase?"

Therapies and Procedures

1.	Resistance Training 01/01/2013 - "In mitochondrial myopathy, aerobic exercise combined with strength training appears to be safe and may be effective in increasing submaximal endurance capacity. " 01/01/2010 - "In mitochondrial myopathy, aerobic exercise combined with strength training appears to be safe and may be effective in increasing submaximal endurance capacity. " 01/01/2013 - "The fourth trial compared combined strength training and aerobic exercise versus no training in 18 people with mitochondrial myopathy. " 01/01/2010 - "The third trial compared combined strength training and aerobic exercise versus no training in 18 people with mitochondrial myopathy. "
2.	Hematopoietic Stem Cell Transplantation 10/01/2010 - "Three therapeutic strategies look promising: (i) allogeneic hematopoietic stem cell transplantation in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy); (ii) bezafibrate, an activator of PGC-1alpha, has proven effective in animal models of mitochondrial myopathy; and (iii) pronucleus transfer into a normal oocyte is effective in eliminating maternal transmission of mtDNA, thus preventing the appearance of mtDNA-related disorders."
3.	Anesthesia 06/01/2013 - "This course explores the considerations that the anesthesia provider has to be aware of, when caring for a patient with a mitochondrial myopathy. " 04/01/2001 - "[Subarachnoid anesthesia in a case of mitochondrial myopathy]." 03/01/1996 - "[Anesthesia in a case of mitochondrial myopathy]." 10/01/1993 - "[Anesthesia and intensive therapy for a patient with mitochondrial myopathy]." 04/01/1997 - "[Subconjunctival anesthesia: an alternative for vitrectomy in mitochondrial myopathy]."
4.	Denervation 03/01/1997 - "The findings suggest 1) type I and type II smooth red fibers are different in origin, 2) type II smooth red fibers change to ragged red fibers, 3) type I and type II smooth red fibers are important markers of chronic denervation and mitochondrial myopathy, respectively. " 05/01/1992 - "The pattern of findings observed in OPMD differs from those identified in denervation, disuse and mitochondrial myopathy." 08/01/1985 - "examination demonstrated a myopathic pattern, but mitochondrial changes are quite different from those reported in mitochondrial myopathies and jagged Z-line seems poorly correlated with Z-line streaming present in denervation atrophy, target fibers, core-like lesions or other Z-line abnormalities of the nemaline myopathy. " 09/01/1993 - "In both groups, whatever the in vitro contracture test results, pathological findings were heterogeneous and revealed various changes: rhabdomyolysis, mitochondrial myopathy, denervation, type II atrophy, AMPase deficiency, non-specific findings or normal features. "
5.	Laparoscopic Cholecystectomy 12/01/1998 - "Laparoscopic cholecystectomy in a patient with mitochondrial myopathy." 03/01/2015 - "We report the case of a 59-year-old woman with mitochondrial myopathy who underwent elective laparoscopic cholecystectomy and hemorrhoidectomy, and we review the literature discussing general anesthesia for adults with mitochondrial myopathy. " 12/01/1998 - "The authors report a 27-year-old woman with mitochondrial myopathy and respiratory failure requiring nasal-CPAP administration who successfully underwent laparoscopic cholecystectomy for chronic cholecystitis. " 02/01/2010 - "[Anesthesia during laparoscopic cholecystectomy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS-syndrome)]."