Hnilicová P1, Turčanová Koprušáková M2, Kurča E2, Zeleňák K3, Kolísek M1
- Biomedical Center Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia; PH (presenting): This email address is being protected from spambots. You need JavaScript enabled to view it.; MK: This email address is being protected from spambots. You need JavaScript enabled to view it.
- Clinic of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia; MTK: This email address is being protected from spambots. You need JavaScript enabled to view it., EK: This email address is being protected from spambots. You need JavaScript enabled to view it.
- Clinic of Radiology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin, Slovakia; KZ: This email address is being protected from spambots. You need JavaScript enabled to view it.
Dysferlin is an integrated transmembrane protein enabling damaged membrane reparation. Although it is most pronounced in the skeletal muscles, it has also been shown in the brain, small intestine, liver, lungs, or kidneys. Dysfunctional dysferlin causes muscular dystrophy called dysferlinopathy, with the most common phenotype (Miyoshi) manifesting as distal muscular weakness. In Miyoshi dysferlinopathy, amyloid deposits in the brain were further observed, contributing to the development of Alzheimer's disease. In this study, nine family members with an incidence of Miyoshi dysferlinopathy (4 patients, 5 controls) were examined twice, before and after magnesium citrate supplementation (Diasporal® Extra 400; 400 mg/day during 3 months), using phosphorus-31 magnetic resonance spectroscopy (31P MRS) performed at a 1.5 Tesla MR scanner. The 31P MRS protocol included the multivoxel spectroscopy (time to repeat/echo = 290/2.3 ms, voxel size = 32.5x32.5x32.5 mm3) processed in jMRUI. Evaluated were ratios of metabolites: PME = phosphomonoesters, PDE = phosphodiesters, PCr = phosphocreatine, Pi = inorganic phosphate, α-β-γ-ATP = adenosine triphosphates. Obtained was also indirectly measured (chemical shift of βATP and PCr) concentration of intracellular Mg2+. In the motoric brain area in patients with Miyoshi dysferlinopathy, active neural re-modulation (↑PME ratios) and significantly lower levels of intracellular Mg2+ compared to controls were revealed. A significantly increased concentration of intracellular Mg2+ with initial membrane changes (↓PME ratios) was observed in patients after magnesium citrate supplementation. This study confirmed the passing of magnesium citrate through the blood-brain barrier and the effect of the treatment strategy on the brain tissue as a prospective therapeutic tool in clinical practice. This study was supported by the APVV grant no. SK-AT-20-0010.
