Mitochondrial disorders in patients with familial form of MERRF syndrome
- Authors: Latypov A.S.1, Proskurina E.V.1, Kotov S.V.1, Sidorova O.P.1, Vasilenko I.A.1, Kassina D.V.1, Kotov A.S.1
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Affiliations:
- M.F. Vladimirsky Moscow Regional Research Clinical Institute
- Issue: Vol 18, No 4 (2023)
- Pages: 53-57
- Section: CLINICAL OBSERVATIONS
- Published: 03.01.2024
- URL: https://rjdn.abvpress.ru/jour/article/view/453
- DOI: https://doi.org/10.17650/2073-8803-2023-18-4-53-57
- ID: 453
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Abstract
MERRF syndrome (myoclonic epilepsy ragged red fibres) belongs to the group of primary mitochondrial diseases and is characterized by a combination of myoclonic epilepsy and the phenomenon of ragged red fibres on muscle biopsy. The aim of this work is to study mitochondrial disorders in patients from a family with MERRF syndrome by determining the cytochemical activity of mitochondrial enzymes in peripheral blood lymphocytes and the level of lactate in the blood. Clinical cases of a 25-year-old sister and a 19-year-old brother with MERRF syndrome with the m.8344A>G variant in MT-TK (tRNA (Lys)) with a blood heteroplasmy level of 50 % in the sister and homoplasmy in the brother are presented. Mitochondrial disorders were assessed by blood lactate levels and cytochemical studies of mitochondrial enzyme activity in peripheral blood lymphocytes. Pre-prandial blood lactate levels were elevated in both patients. After a carbohydrate load, it increased in the sister, and decreased in the brother. The sister had decreased activity of peripheral blood lymphocyte enzymes while taking levetiracetam, 100 mg of coenzyme Q10 and 100 mg of L-carnitine. The dose of energotropic drugs was increased, which led to an increase in the activity of mitochondrial enzymes. The brother had a compensatory increase in the level of succinate dehydrogenase and a decrease in the activity of other enzymes. The methods we used can be used in clinical practice to diagnose mitochondrial disorders and to adjust the dosage of energotropic drugs, which remain relevant due to the lack of effective gene therapy.
About the authors
A. Sh. Latypov
M.F. Vladimirsky Moscow Regional Research Clinical Institute
Email: fake@neicon.ru
ORCID iD: 0009-0006-0064-0448
Build. 1, 61/2 Shchepkina St., Moscow 129110
Russian FederationE. V. Proskurina
M.F. Vladimirsky Moscow Regional Research Clinical Institute
Email: fake@neicon.ru
ORCID iD: 0009-0002-4865-433X
Build. 1, 61/2 Shchepkina St., Moscow 129110
Russian FederationS. V. Kotov
M.F. Vladimirsky Moscow Regional Research Clinical Institute
Email: fake@neicon.ru
ORCID iD: 0000-0002-8706-7317
Build. 1, 61/2 Shchepkina St., Moscow 129110
Russian FederationO. P. Sidorova
M.F. Vladimirsky Moscow Regional Research Clinical Institute
Author for correspondence.
Email: sidorovaop2019@mail.ru
ORCID iD: 0000-0003-4113-5799
Build. 1, 61/2 Shchepkina St., Moscow 129110
Russian FederationI. A. Vasilenko
M.F. Vladimirsky Moscow Regional Research Clinical Institute
Email: fake@neicon.ru
ORCID iD: 0000-0002-6374-9786
Build. 1, 61/2 Shchepkina St., Moscow 129110
Russian FederationD. V. Kassina
M.F. Vladimirsky Moscow Regional Research Clinical Institute
Email: fake@neicon.ru
ORCID iD: 0000-0002-6759-9121
Build. 1, 61/2 Shchepkina St., Moscow 129110
Russian FederationA. S. Kotov
M.F. Vladimirsky Moscow Regional Research Clinical Institute
Email: fake@neicon.ru
ORCID iD: 0000-0003-2988-5706
Build. 1, 61/2 Shchepkina St., Moscow 129110
Russian FederationReferences
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