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Mitochondrial Diseases (Mitochondrial Disease)

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Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.

Also Known As:

Mitochondrial Disease; Respiratory Chain Deficiency; Disorders, Mitochondrial; Mitochondrial Disorders; Mitochondrial Electron Transport Chain Deficiencies; Mitochondrial Respiratory Chain Deficiencies; Deficiencies, Oxidative Phosphorylation; Deficiencies, Respiratory Chain; Deficiency, Oxidative Phosphorylation; Deficiency, Respiratory Chain; Disease, Mitochondrial; Disorder, Mitochondrial; Mitochondrial Disorder; Oxidative Phosphorylation Deficiency; Phosphorylation Deficiencies, Oxidative; Phosphorylation Deficiency, Oxidative; Electron Transport Chain Deficiencies, Mitochondrial; Oxidative Phosphorylation Deficiencies; Respiratory Chain Deficiencies, Mitochondrial

Networked: 1636 relevant articles (38 outcomes, 132 trials/studies)

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Disease Context: Research Results

Nutritional and Metabolic Diseases: 2
- Metabolic Diseases: 3200
  - Mitochondrial Diseases: 1636

Related Diseases

1.	Stroke (Strokes)
2.	MELAS Syndrome (Syndrome, MELAS)
3.	Neurodegenerative Diseases (Neurodegenerative Disease)
4.	Liver Failure
5.	Parkinson Disease (Parkinson's Disease)

Experts

1.	Taylor, Robert W: 46 articles (07/2015 - 07/2002)
2.	Chinnery, Patrick F: 29 articles (05/2015 - 07/2002)
3.	Zeviani, Massimo: 24 articles (07/2015 - 01/2004)
4.	Turnbull, Douglass M: 23 articles (05/2015 - 07/2002)
5.	Nakada, Kazuto: 22 articles (11/2015 - 02/2004)
6.	Hayashi, Jun-Ichi: 22 articles (11/2015 - 04/2002)
7.	McFarland, Robert: 22 articles (07/2015 - 08/2010)
8.	Wong, Lee-Jun C: 22 articles (06/2013 - 11/2002)
9.	Copeland, William C: 21 articles (03/2015 - 05/2002)
10.	Finsterer, Josef: 20 articles (02/2015 - 06/2006)

Drugs and Biologics

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

1.	Mitochondrial DNA (mtDNA)IBA 09/01/2013 - "Mitochondria-targeted TALEN (mitoTALEN) expression led to permanent reductions in deletion or point-mutant mtDNA in patient-derived cells, raising the possibility that these mitochondrial nucleases can be therapeutic for some mitochondrial diseases. " 04/01/2013 - "Clinically available genetic diagnostic testing options improved by 2006 to include sequencing and deletion analysis of an increasing number of individual nuclear genes linked to mitochondrial disease, genome-wide microarray analysis for chromosomal copy number abnormalities, and mitochondrial DNA whole genome sequence analysis. " 06/30/2010 - "This study will be helpful for the molecular diagnosis of mitochondrial diseases, as well as establishment of mtDNA database in Koreans." 11/07/2015 - "Between January 2000 and May 2014, we retrospectively included in this study 260 consecutive patients (60% women) ≥18 years (interquartile range 31-54), with genetically proven mitochondrial diseases, including 109 with mitochondrial DNA (mtDNA) single large-scale deletions, 64 with the m.3243A>G mutation in MT-TL1, 51 with other mtDNA point mutations, and 36 patients with nuclear gene mutations. " 05/01/2015 - "The purpose of the present study is to better define the clinical phenotypes associated with a single mtDNA deletion, by a retrospective study on a large cohort of 228 patients from the database of the "Nation-wide Italian Collaborative Network of Mitochondrial Diseases". "
2.	Pyruvic Acid (Pyruvate)IBA 02/01/2012 - "Though the efficacy of pyruvate on LS will be evaluated by randomized double-blind placebo-controlled study design in future, pyruvate therapy is a possible candidate for therapeutic choice for currently incurable mitochondrial disorders such as LS." 01/01/2015 - "GDF15 is a novel biomarker to evaluate efficacy of pyruvate therapy for mitochondrial diseases." 06/01/2014 - "Efficacy of pyruvate therapy in patients with mitochondrial disease: a semi-quantitative clinical evaluation study." 06/01/2014 - "There are some case reports on the efficacy of pyruvate treatment for mitochondrial diseases. " 05/01/2015 - "Pyruvate oxidation defects (PODs) are among the most frequent causes of deficiencies in the mitochondrial energy metabolism and represent a substantial subset of classical mitochondrial diseases. "
3.	Lactic Acid FDA LinkGeneric 07/01/2008 - "The absence of elevated levels of lactate, ragged red fibres in the muscle biopsy or the negative results for mutations in the genetic study do not rule out the possible existence of a mitochondrial disease. " 08/01/2013 - "For clinicians, it is important to consider the possibility of an underlying mitochondrial disorder when there is systemic involvement (more than one organ affected), a suggestive family history, or an elevated level of lactic acid in the blood or cerebrospinal fluid." 02/01/2012 - "Diagnostic accuracy of blood and CSF lactate in identifying children with mitochondrial diseases affecting the central nervous system." 01/01/2012 - "The most widely applied clinical application is screening for defective oxidative metabolism in mitochondrial disorders by means of the lactate stress test. " 07/01/2011 - "Lactate peak on brain MRS in children with syndromic mitochondrial diseases."
4.	Biological Markers (Surrogate Marker)IBA 09/01/2011 - "Muscle biopsy is the gold standard for diagnosis of mitochondrial disorders because of the lack of sensitive biomarkers in serum. " 09/01/2014 - "This is in part related to the lack of biomarkers to monitor disease status or response to treatment and the paucity of randomized, controlled clinical trials focused on mitochondrial disease therapies. " 08/01/2013 - "Although trial design is improving, there is a critical need to develop new biomarkers of mitochondrial disease. " 04/01/2015 - "In conclusion, while there is substantial evidence linking mitochondrial bioenergetics and MDD, there are currently no clear mitochondrial phenotypes or biomarkers to use as guides in targeting therapies beyond individuals with MDD and known mitochondrial disorders toward the general population of individuals with MDD. " 01/01/2015 - " results indicate that serum GDF15 is not a strong surrogate marker for general mitochondrial disease severity. "
5.	EnzymesIBA 05/09/1997 - "Thus, our nuclear transfer system is effective for determining whether a mitochondrial or nuclear genome of a patient is responsible for a disease and whether deficiency of mitochondrial enzymes, including enzymes exclusively encoded by nuclear genomes, is transmitted in a nuclear recessive or nuclear dominant way, providing the parents of the patients with valuable information for genetic counseling on the risk of mitochondrial diseases in their next babies." 01/24/1989 - "The study of the regulation of the expression of these genes may help to illuminate the basis of tissue-specific human mitochondrial diseases which arise because of defects in mitochondrial enzymes only in the affected tissue and not in other tissues of the same individual." 04/15/2014 - "These findings confirm the potential utility of alternative respiratory chain enzymes as tools to combat mitochondrial disease, while indicating important limitations thereof. " 03/15/2013 - "We conclude that characterizing the unique molecular mechanisms of pol γ deficiency for physiologically important mutant enzymes is important for understanding mitochondrial disease and for predicting disease severity." 01/01/2012 - "Over the last 12 years, interest in dNTPs, and specifically the mitochondrial dNTP pools, has expanded to biomedical science because several mitochondrial diseases have been found to be caused by dysfunctions of several enzymes involved in dNTP catabolism or anabolism. "
6.	VitaminsIBA 01/01/2006 - "We included randomised controlled trials (including crossover studies) and quasi-randomised trials comparing pharmacological treatments, and non-pharmacological treatments (vitamins and food supplements), and physical training in individuals with mitochondrial disorders. " 01/01/2004 - "Effect of high-dose vitamins, coenzyme Q and high-fat diet in paediatric patients with mitochondrial diseases." 05/01/2002 - "Although there is no specific therapy for mitochondrial diseases to date, coenzyme Q and various vitamins as well as moderate degree exercise might be recommended." 05/01/1993 - "The results suggest that coenzyme Q10 plus vitamin therapy does not significantly improve mitochondrial oxidative metabolism in patients with mitochondrial disease in general. " 05/01/1993 - "Coenzyme Q10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease."
7.	NAD (NADH)IBA 05/01/2015 - "Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency." 06/03/2014 - "NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease." 01/01/1997 - "We have also obtained experimental evidence that CoQ concentration may be rendered more rate-limiting for NADH oxidation either by a decrease of CoQ content (as in liver regeneration or under an acute oxidative stress), or by a possible increase of the Km for CoQ, as in some mitochondrial diseases and ageing. " 02/01/1991 - "Five patients had mitochondrial respiratory chain deficiency in complex I as shown by the low oxygen consumption in isolated mitochondria using three NAD(+)-linked substrates. " 03/01/2013 - "Nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase (complex I) enzyme deficiencies account for a significant proportion of mitochondrial disorders, including LS. "
8.	Poly(ADP-ribose) Polymerases (Poly ADP Ribose Polymerase)IBA 06/01/2015 - "Recent studies report that increased availability of intracellular NAD obtained by inhibition of the NAD-consuming enzyme poly(ADP-ribose) polymerase (PARP)-1 or supplementation with the NAD-precursor nicotinamide riboside (NR) ameliorates energetic derangement and symptoms in mouse models of mitochondrial disorders. " 06/03/2014 - "We show here that supplementation with nicotinamide riboside, a natural NAD(+) precursor, or reduction of NAD(+) consumption by inhibiting the poly(ADP-ribose) polymerases, leads to marked improvement of the respiratory chain defect and exercise intolerance of the Sco2 knockout/knockin mouse, a mitochondrial disease model characterized by impaired cytochrome c oxidase biogenesis. "
9.	nicotinamide-beta-ribosideIBA 06/01/2015 - "Recent studies report that increased availability of intracellular NAD obtained by inhibition of the NAD-consuming enzyme poly(ADP-ribose) polymerase (PARP)-1 or supplementation with the NAD-precursor nicotinamide riboside (NR) ameliorates energetic derangement and symptoms in mouse models of mitochondrial disorders. " 06/03/2014 - "We show here that supplementation with nicotinamide riboside, a natural NAD(+) precursor, or reduction of NAD(+) consumption by inhibiting the poly(ADP-ribose) polymerases, leads to marked improvement of the respiratory chain defect and exercise intolerance of the Sco2 knockout/knockin mouse, a mitochondrial disease model characterized by impaired cytochrome c oxidase biogenesis. "
10.	SodiumIBA 01/01/2009 - "Although mitochondrial diseases are not common and hyponatremia in patients with these diseases is not well known, clinicians should pay close attention to serum sodium levels and maintain them properly." 05/01/2012 - "Sodium pyruvate may be effective for ameliorating the clinical manifestations of mitochondrial diseases. " 05/01/2012 - "Sodium pyruvate has been reported to have a therapeutic effect in mitochondrial diseases. " 01/01/2015 - "Sodium pyruvate could prove effective in addressing both elevated serum lactic acid levels and exercise intolerance in mitochondrial disease. " 01/01/2014 - "We also describe the investigator-mediated clinical trial of L-arginine, and taurin for MELAS, and new project for developing the therapeutic drug of sodium pyruvate for lactic acidosis associated with mitochondrial disorders in Japan."

Therapies and Procedures

1.	Ketogenic Diet 05/01/2015 - "PODs are a therapeutically interesting group of mitochondrial diseases since some can be bypassed by ketogenic diet or treated by cofactor supplementation. " 09/01/2010 - "All received 1H-MRS initially and also after a ketogenic diet and mitochondrial disease treatment cocktail (follow up average was 10.2 months). " 04/01/2009 - "We present a literature review of the utility of a ketogenic diet in mitochondrial disorders, and speculations as to why the diet may be helpful in Alpers-Huttenlocher syndrome." 01/01/2012 - "A ketogenic diet may offer neuroprotection in glaucoma and mitochondrial diseases of the optic nerve." 09/01/2013 - "At present, there are no curative treatments for mitochondrial diseases, and the efficacy of many anticonvulsants, vitamins, nutritional supplements, and the ketogenic diet remain to be proven. "
2.	Intraocular Injections 01/01/2013 - "Intraocular injection of AAV-NDI1 overcomes many barriers previously associated with developing therapies for LHON and holds great therapeutic promise for a mitochondrial disorder for which there are no effective therapies."
3.	Exercise Therapy (Therapy, Exercise) 01/01/2011 - "Exercise therapy has been shown to improve mitochondrial function in patients with mitochondrial disease. "
4.	Transplantation (Transplant Recipients) 11/15/2005 - "This study directly addressed the issue of gene therapy of mitochondrial diseases by using nuclear transplantation of zygotes of transmitochondria mice (mito-mice). " 08/04/2010 - "Transplantation analysis using a mouse model of mitochondrial disease revealed that mitochondrial respiration defects resulted in a significant decrease in the total number and repopulating activity of bone marrow cells, although the number of HSPCs increased. " 03/01/2009 - "Moreover, the presence of mitochondrial complementation enables gene therapy for mitochondrial diseases using nuclear transplantation of zygotes. " 05/01/2006 - "Moreover, the presence of mitochondrial complementation enables gene therapy for mitochondrial diseases using nuclear transplantation of zygotes." 01/01/1996 - "Response to "Germ-line therapy to cure mitochondrial disease: protocol and ethics of in vitro ovum nuclear transplantation" by Donald S. "
5.	Cochlear Implantation 09/01/2015 - "Cochlear implantation for mitochondrial disease patients seems to be a viable treatment option in the absence of significant cognitive impairment." 09/01/2015 - "Mitochondrial disease patients who underwent cochlear implantation surgery sustained gains in hearing performance even long after surgery. " 09/01/2015 - "Only 1.4% (5 of 367) of cochlear implantation cases at Kyoto University Hospital underwent cochlear implantation surgery because of syndromic mitochondrial diseases. " 09/01/2015 - "We identified five patients with syndromic mitochondrial disease who underwent cochlear implantation surgery. " 09/01/2011 - "The case history, diagnosis of mitochondrial disease, and assessment of the benefits of cochlear implantation are documented. "