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• W2014799757 abstract "Mitochondrial diseases appear as various systemic organ disorders mainly observed in brain, nerve, skeletal muscle, and heart which are organs with higher necessity of energy [1Nunnari J. Suomalainen A. Mitochondria: in sick and in health.Cell. 2012; 148: 1145-1159Abstract Full Text Full Text PDF PubMed Scopus (1936) Google Scholar, 2Koga Y. Current opinion of therapeutic drugs for mitochondrial disease and investigator-mediated clinical trial of l-arginine on MELAS.J Clin Exp Med. 2010; 232: 759-764Google Scholar]. Mitochondrial malfunction usually results in reduction in adenosine triphosphate production and leads these organs to a shortness of metabolic energy as well as hyper-production of pyruvate or lactic acid [1Nunnari J. Suomalainen A. Mitochondria: in sick and in health.Cell. 2012; 148: 1145-1159Abstract Full Text Full Text PDF PubMed Scopus (1936) Google Scholar]. Representative appearance of clinical mitochondrial encephalomyopathy can be classified as chronic progressive external ophthalmoplegia, myoclonic epilepsy with ragged red fibers and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) [1Nunnari J. Suomalainen A. Mitochondria: in sick and in health.Cell. 2012; 148: 1145-1159Abstract Full Text Full Text PDF PubMed Scopus (1936) Google Scholar]. Mitochondrial cardiomyopathy is also a phenotype of mitochondrial disease and is defined as abnormal structure and/or function of cardiac tissue caused by genetic abnormality involving mitochondrial respiratory chain without any other known heart disease [3Koenig M.K. Presentation and diagnosis of mitochondrial disorders in children.Pediatr Neurol. 2008; 38: 305-313Abstract Full Text Full Text PDF PubMed Scopus (112) Google Scholar, 4Skladal D. Halliday J. Thornburn D.R. Minimum birth prevalence of mitochondrial respiratory chain disorders in children.Brain. 2003; 126: 1905-1912Crossref PubMed Scopus (371) Google Scholar, 5Ichida F. Tsubata S. Bowles K.R. Haneda N. Uese K. Miyawaki T. Dreyer W.J. Messina J. Li H. Bowles N.E. Towbin J.A. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.Circulation. 2001; 103: 1256-1263Crossref PubMed Scopus (468) Google Scholar]. These and the other types of mitochondrial diseases are rarely observed and termed as “orphan disease” and the population of the patients is considered less than 50,000 in total in Japan. Because of such a situation, even a precise classification as well as clinical trials for therapeutic approaches is limited (Fig. 1) [2Koga Y. Current opinion of therapeutic drugs for mitochondrial disease and investigator-mediated clinical trial of l-arginine on MELAS.J Clin Exp Med. 2010; 232: 759-764Google Scholar]. Probably, the replenishment of lacking enzyme in abnormal mitochondria will be a fundamental approach, but such methodology cannot be anticipated because of restricted transferring function of mitochondria membrane. Concepts of possible therapeutic materials for mitochondrial diseases are summarized in Fig. 2 [1Nunnari J. Suomalainen A. Mitochondria: in sick and in health.Cell. 2012; 148: 1145-1159Abstract Full Text Full Text PDF PubMed Scopus (1936) Google Scholar, 2Koga Y. Current opinion of therapeutic drugs for mitochondrial disease and investigator-mediated clinical trial of l-arginine on MELAS.J Clin Exp Med. 2010; 232: 759-764Google Scholar]. None of these materials were proven to be effective for any type of mitochondrial disease and all of the trials for the treatment involve off-label use. The most recent review, i.e. Cochrane Review 2006 [6Chinnery P. et al.Turnbull D. The Cochrane database of systematic reviews. John Wiley and Sons, Hoboken2006: 625-650Google Scholar], has realized the absence of any effective therapy for mitochondrial diseases, but it also mentioned several interesting reports. They were the reports about coenzyme Q10, creatine, dichloroacetic acid (DCA), and dimethylglycine as the therapeutic materials but the results were controversial [7Kaberlein M. Rabinovitch P.S. Medicine: grapes versus gluttony.Nature. 2006; 444: 280-281Crossref PubMed Scopus (32) Google Scholar, 8Ohsawa I. Ishikawa M. Takahashi K. Watanabe M. Nishimaki K. Yamagata K. Katsura K. Katayama Y. Asoh S. Ohta S. Hydrogen acts as a therapeutic antioxidant by selectivity reducing cytotoxic oxygen radicals.Nat Med. 2007; 13: 688-694Crossref PubMed Scopus (1639) Google Scholar]. However, some clinical trials, such as coenzyme Q10 for mitochondrial diseases, DCA for MELAS, and idebenone for Leber hereditary optic neuropathy are still on going. The possibilities of resveratorol and l-arginine have also been suggested by several reports [9Koga Y. Akita Y. Nishioka J. Yatsuga S. Povalko N. Tanabe Y. Fujimoto S. Matsuishi T. l-Arginine improves the symptoms of stroke like episodes in MELAS.Neurology. 2005; 64: 710-712Crossref PubMed Scopus (256) Google Scholar, 10Ikejiri Y. Mori E. Ishii K. Nishimoto K. Yasuda M. Sasaki M. Idebenone improves cerebral mitochondrial oxidative metabolism in a patient with MELAS.Neurology. 1996; 47: 583-585Crossref PubMed Scopus (66) Google Scholar]. In the case report of Vahdat et al. [11Vahdat K.K. Ilias-Basha H. Tung P.P. Memon N.B. Hall A.C. Koenig M.K. Meyers D.E. Ventricular arrhythmias and acute left ventricular dysfunction as a primary and life threatening manifestation of a mitochondrial crisis: a novel management strategy.J Cardiol Case. 2012; 6: e35-e38Abstract Full Text Full Text PDF Scopus (3) Google Scholar], a catastrophic condition of diseased heart was dramatically improved by the administration of a unique “mitochondrial cocktail” which contained respiratory chain co-factors (coenzyme Q10, thiamine, riboflavin), antioxidant (vitamin-E), biochemical materials (l-carnitine, creatine, folate), and vasodilator (l-arginine). Although the diagnosis itself of the patient was controversial, the effect of this therapeutic approach was dramatic and cardiac condition almost fully recovered at least in this case. Although it will be difficult to clarify the role of each material in this unique cocktail in mitochondrial diseases, this kind of “broad approach” might be effective in various types of mitochondrial diseases [12Bakker H.D. Scholte H.R. Jeneson J.A. Vitamin E in a mitochondrial myopathy with proliferating mitochondria.Lancet. 1993; 342: 175Abstract PubMed Scopus (17) Google Scholar, 13Barbiroli B. Medori R. Tritschler H.J. Klopstock T. Seibel P. Reichmann H. Iotti S. Lodi R. Zaniol P. Lipoic (thioctic) acid increases brain energy availability and skeletal muscle performance as shown by in vivo 31P-MRS in a patient with mitochondrial cytopathy.J Neurol. 1995; 242: 472-477Crossref PubMed Scopus (51) Google Scholar, 14Tarnopolsky M.A. Roy B.D. MacDonald J.R. A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies.Muscle Nerve. 1997; 20: 1502-1509Crossref PubMed Scopus (218) Google Scholar] and may show a novel pharmacological approach to mitochondrial diseases. However, strong attention should be paid to the dosage and method of administration of these materials because they can cause various types of side effects, including hypotension, peripheral vascular injury, cardiogenic shock, or life-threatening arrhythmias. The protocol for such broad therapy should be constructed carefully by considering case-by-case situations. Ventricular arrhythmias and acute left ventricular dysfunction as a primary and life-threatening manifestation of a mitochondrial crisis: A novel management strategyJournal of Cardiology CasesVol. 6Issue 2PreviewMitochondrial disorders are genetic diseases that result in a deficiency of energy metabolism (ATP production). A “mitochondrial crisis” can occur in the setting of infection, dehydration, or physiologic stress. The hallmark of a mitochondrial crisis is failure of multiple individual organ systems. The mortality of mitochondrial crisis is high and therapy is supportive but involves a specific strategy of hydration with dextrose-containing IV fluids, avoidance of many medications known to worsen mitochondrial function, and limitations of oxygenation as this can promote free radical production. Full-Text PDF Open Archive" @default.
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