Thesis supervisor: Endre Pál
Location of studies (in Hungarian): PTE ÁOK, Pécs, Szigeti u. 12. Abbreviation of location of studies: ÁOK
Description of the research topic:
Myotonic dystrophy is the most common aduthood hereditary muscle disease. It involves not only the skeletal muscles but other systems (such as heart, endocrine system, eyes) as well, therefore complex care is necessary for patients. The molecular mechanisms of the disease is only partly understood. It seems that the transcripted mRNAs have tri- or tetranucleotid repeats, and those abnormal RNAs sequestre RNA-binding spicing proteins (eg. MBNL1) in the nucleus inhibiting the mRNA development. This study involves histological technics (morphometry, immunohistochemistry, in situ hibridization) that support the diagnostic procedure and allow the differentiation of MD type 1 and type 2. For patient follow-up we use electrophysiologc tests and imaging (muscle MRI). Finally, we try to educe a physiotherapic program to improve patients physical condition and slow down the disease progression.
Number of students who can be accepted: 1
Deadline for application: 2024-05-16
2024. IV. 17. ODT ülés Az ODT következő ülésére 2024. június 14-én, pénteken 10.00 órakor kerül sor a Semmelweis Egyetem Szenátusi termében (Bp. Üllői út 26. I. emelet).
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