Mitohondrijske miopatije

master's thesis

• Title (english): Mitochondrial myopathies
• Author: Mašan Sredanović
• Mentor: Ervina Bilić (mentor)
• Committee member: Željka Petelin Gadže (predsjednik povjerenstva)
• Committee member: Mario Habek (član povjerenstva)
• Committee member: Ervina Bilić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Neurology); Zagreb
• Defense date and country: 2023-09-19, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Neurology

Abstract

Mitohondrijske miopatije skupina su rijetkih poremećaja uzrokovanih mutacijama u mtDNA ili nDNA, te se ovisno o tome nasljeđuju maternalno ili rjeđe, prema Mendelovim zakonima. Budući da su mitohondriji glavni izvor energije u stanici, njihova disfunkcija tipično se prezentira na tkivima koja imaju velike energetske potrebe, poput živčanog sustava, skeletnog mišićja i srca. Broj zahvaćenih organskih sustava i stupanj oštećenja vrlo su varijabilni te mogu imitirati širok spektar drugih bolesti, no u pravilu se pacijenti prezentiraju skupinom simptoma koja odgovara određenom sindromu. Najčešći fenotipski sindromi koji se viđaju u kliničkoj praksi su MELAS i LHON. Dijagnostička obrada mitohondrijskih miopatija uključuje anamnezu s naglaskom na obiteljsku povijest bolesti, fizikalni pregled, laboratorijske pretrage te multisustavnu procjenu kako bi se utvrdila potencijalna oštećenja pojedinih organa. Definitivna dijagnoza postavlja se na temelju biopsije mišića i molekularnog genetskog testiranja. Terapijski pristup mitohondrijskim poremećajima primarno je simptomatski, što uključuje podvrgavanje specifičnom dijetnom režimu, tjelesnu aktivnost, uzimanje vitamina i antioksidansa te izbjegavanje lijekova koji oštećuju mitohondrijski metabolizam. Osim liječenja, bitna je uloga prevencije koja podrazumijeva genetsko savjetovanje, odnosno prepoznavanje obitelji s poviješću mitohondriopatija i savjetovanje o mogućnostima vezanim uz začeće. Trenutno su u tijeku brojna istraživanja na različitim molekulama koje se potencijalno mogu koristiti u liječenju mitohondrijskih bolesti, stoga je za očekivati značajan napredak u zbrinjavanju ovih pacijenata.

Abstract (english)

Mitochondrial myopathies are a group of rare disorders caused by mutations in mtDNA or nDNA and are inherited maternally or, less commonly, following Mendelian inheritance patterns. Since mitochondria are the main source of energy in the cell, their dysfunction typically presents in tissues with high energy demands, such as the nervous system, skeletal muscles, and heart. The number of affected organ systems and the degree of damage can vary widely and can mimic a broad range of other diseases, but patients generally present with a group of symptoms corresponding to a specific syndrome. The most common phenotypic syndromes seen in clinical practice are MELAS and LHON. The diagnostic workup of mitochondrial myopathies includes a medical history focusing on the family history of the disease, physical examination, laboratory tests, and a multisystem assessment to determine potential damage to individual organs. The definitive diagnosis is based on muscle biopsy and molecular genetic testing. The therapeutic approach to mitochondrial disorders is primarly symptomatic, involing adherence to a specific dietary regimen, physical activity, intake of vitamins and antioxidants, and avoidance of medications that impair mitochondrial metabolism. In addition to treatment, prevention plays a crucial role, which encompasses genetic counseling. This involes identifying families with a history of mitochondrial pathologies and providing guidance on reproductive options. Numerous studies are currently underway on different molecules that potentially can be used in the treament of mitochondrial disease, therefore significant progress in the management of these patients can be expected.

• Keywords: mitohondriji; miopatija; MELAS
• Keywords (english): mitochondria; myopathy; MELAS
• Language: croatian
• URN:NBN: urn:nbn:hr:105:920526
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2023-10-31 09:27:43