Ar MYBPC1 saistītā miogēnā tremora dzīvnieku modeļsistēmas

6533b820fe1ef96bd1279efd

RESEARCH PRODUCT

Ar MYBPC1 saistītā miogēnā tremora dzīvnieku modeļsistēmas

Anna ŽDanoviča

subject

sarkomēra proteīni sMyBP-C peļu modeļsistēma gēnu ekspresija Bioloģija miogēnais tremors

description

Nesenie atklājumi ģenētiski pārmantoto muskuļu slimību laukā parādīja, ka jauni varianti c.739T>C (p.Y247H) un c.742G>A (p.E248K) MYBPC1 gēnā, kas kodē lēno skeleta miozīnu saistošo proteīnu C, izraisa muskuļu miopātiju ar miogēnu tremoru. Bakalaura darba mērķis ir veikt MYBPC1 gēna patogēno variantu p.Y247H un p.E248K funkcionālo analīzi, izmantojot peļu knock-in modeļus. Darba izstrādē izmantotās metodes iekļauj transkriptomu bibliotēku sagatavošanu un analīzi, digitālo pilienu PCR un dzīvnieku modeļa funkcionālo izpēti. Darba gaitā tika analizēti divi peļu knock-in modeļi: vienam tika veikta gēnu ekspresijas analīze skeleta muskuļos, otram veikta sākotnējā funkcionālā analīze. Veiktie pētījumi parāda būtiskas atšķirības starp slimajiem un veselajiem dzīvniekiem esošajās modeļsistēmās gan funkcionālajā, gan gēnu ekspresijas līmenī.

year	journal	country	edition	language
2021-01-01

https://dspace.lu.lv/dspace/handle/7/54501

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