Molekularne osnove mišićnih distrofija

undergraduate thesis

• Title (english): Molecular basis of muscular dystrophies
• Author: Ivana Jurišić
• Mentor: Maja Matulić (mentor)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2023-09-06, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Mišićne distrofije su skupina nasljednih bolesti kojima je svojstveno progresivno slabljenje i
propadanje mišića. S obzirom na kontraktilnu silu koju proizvode i kojoj su izložene, mišićne
stanice moraju biti osigurane protiv mehaničkih oštećenja. U tome smislu vrlo je važna strukturna
povezanost citoskeleta i izvanstaničnoga matriksa, jer upravo ona plazmatsku membranu
mišićnih stanica (sarkolemu) održava postojanom. Spomenuta veza ostvaruje se posredstvom
transmembranskih proteina, u prvom redu integrina, te distrofinsko-glikoproteinskog kompleksa
(DGC-a). Oni s jedne strane sarkoleme vežu elemente citoskeleta, a s druge strane laminin, važnu
komponentu izvanstaničnog matriksa mišića. Za stabilnost mišićnih stanica također su važne
interakcije jezgrine ovojnice s citoskeletom i jezgrinom laminom. One uvjetuju strukturni
integritet jezgre i genetsku stabilnost stanice. Shodno tome, poremećaji na nizu relacija:
izvanstanični matriks – sarkolema – citoskelet – jezgrina ovojnica – jezgrina lamina – kromatin,
kompromitiraju izdržljivost mišićnih stanica te mogu dovesti do razvoja mišićnih distrofija.
Terapijski pristupi ovim bolestima većinski su usmjereni na oporavak ekspresije i povećanje
funkcionalnosti defektnih proteina.

Abstract (english)

Muscular dystrophies are a group of inherited disorders characterized by progressive weakening
and degeneration of muscles. Considering the contractile force they produce and to which they
are exposed, muscle cells need to be secured against mechanical damage. In that sense, the
structural linkage between the cytoskeleton and the extracellular matrix is of utmost importance,
because it keeps the plasma membrane of muscle cells (sarcolemma) stable. Said linkage is
achieved through transmembrane proteins, primarily integrins, and the dystrophin-glycoprotein
complex (DGC). On one side of the sarcolemma, they bind elements of the cytoskeleton and on
the other, laminin, an importat component of the extracellular matrix of muscles. The interactions
of the nuclear envelope with the cytoskeleton and the nuclear lamina are also important for the
stability of muscle cells. They determine the structural integrity of the nucleus as well as the
genetic stability of the cell. Accordingly, disturbances along the line: extracellular matrix –
sarcolemma – cytoskeleton – nuclear envelope – nuclear lamina – chromatin, compromise the
durability of muscle cells and can lead to the development of muscular dystrophies. Therapeutic
approaches to these disorders are mostly aimed at restoring the expression and increasing the
functionality of defective proteins.

• Keywords: distrofinsko-glikoproteinski kompleks; izvanstanični matriks; jezgrina lamina
• Keywords (english): dystrophin-glycoprotein complex; extracellular matrix; nuclear lamina
• Language: croatian
• URN:NBN: urn:nbn:hr:217:815842
• Study programme: Title: Molecular Biology; Study programme type: university; Study level: undergraduate; Academic / professional title: sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) molekularne biologije (sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) molekularne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2023-09-12 11:30:13