Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS): diagnostic criteria, features of epileptic seizures, and treatment approaches by the example of a clinical case

Ямин, М.А.; Черникова, И. В.; Арасланова, Л. В.; Shevkun, Pavel A.

doi:10.14412/2074-2711-2017-4-65-69

Cited by 3 publications

(2 citation statements)

References 15 publications

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“…The most frequent mitochondrial diseases include MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes), Kearns-Sayre syndrome (ptosis, ophthalmoplegia, bilateral retinopathy pigmentosa, heart block), MERRF syndrome (myoclonic epilepsy with ragged red fibers), Leber's hereditary optic neuropathy (LHON), NARP syndrome (neuropathy, ataxia and retinitis pigmentosa), etc. [69,75].…”

Section: Mitochondrial Dysfunctionsmentioning

confidence: 99%

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Mitochondrial dysfunctions and antihypoxants

Новиков

Левченкова

Ivantsova

et al. 2020

Rev Clin Pharm Drug Ther

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Mitochondrial dysfunctions (an impaired energy metabolism in the mitochondria) are essential in a pathogenesis of many diseases. Aim. The analysis of various mitochondrial dysfunction (MD) type study, as well as evaluation of drugs with an antihypoxic effect in their treatment. Methods. Collection, systematization and analysis of experimental and clinical data of current scientific research about the problem. Results. The mitochondrial dysfunctions can be caused by genetic disorders of the mitochondrial or nuclear genome (the primary MD or the mitochondrial diseases), as well as structural, functional and biochemical defects of mitochondria caused by other diseases (the secondary MD). MD are characterized by impaired tissue respiration, ATP synthesis deficiency and decreased energy metabolism. The clinical implications of MD are polysystemic and polymorphic. One of the biochemical sign of MD is the lactic acidosis. There are certain difficulties with the early diagnosis of primary MD. It is suggested to use complete exome sequencing among patients with a clinical suspicion on mitochondrial disease. The energotropic pharmacotherapy including drugs with an antihypoxic effect is used for MD treatment. It is more rational to use the drug combination that influences different stages of energy production. The combinations of L-carnitine, coenzyme Q10, cytochrome C and succinate-containing drugs are frequently used for MD. However, the usage of energotropic and antihypoxic drugs is not able to cure the patients and stop the progression of all disease displays. Conclusion. MD are a multidisciplinary problem, therefore, doctors of any speciality must be competent in the MD diagnosis and treatment. The use of energotropic agents in the MD treatment requires further research. Numerous issues remain open (daily drug doses choice, treatment duration, rational combinations). The phenotype variability and the uniqueness of diagnosed cases, clinical and genetic differences between patient groups with mitochondrial diseases fail to create homogeneous samplings for therapy effectiveness and safety analysis. The literature data are the results of different degrees of reliability. The international efforts are needed to unify studies of related mitochondrial disorders, which, in combination with a constant improvement of MD pathogenesis knowledge will allow to develop more effective treatment regimens.

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Section: Mitochondrial Dysfunctionsmentioning

confidence: 99%

“…Typical changes can be detected in magnetic resonance imaging (MRI) of patient brain with MD, for example, symmetrical damage of the subcortical nuclei in the form of cystic changes, foci in the temporal and occipital areas and etc. [12,35,75].…”

Section: Mitochondrial Dysfunctionsmentioning

confidence: 99%