Lizosomske bolesti nakupljanja

undergraduate thesis

• Title (english): Lysosomal storage diseases
• Author: Magdalena Tkalčić
• Mentor: Maja Matulić (mentor)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2023-09-08, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Lizosomi su organeli uključeni u razgradnju tvari unutar stanice, a osim toga imaju bitnu ulogu u
održavanju homeostaze. Razgradnja hranjivih tvari je složen proces u koji je uključeno oko 60
vrsta različitih enzima. Ako postoji greška i u jednom koraku procesa može doći do nakupljanja
nerazgrađenih tvari što može poremetiti normalnu funkciju različitih tkiva i organa. Lizosomske
bolesti nakupljanja su nasljedne bolesti i nastaju zbog mutacija u genima bitnim za sintezu
enzima uključenih u razgradnju tvari. Mogu se podijeliti na nekoliko načina, a u ovome radu
opisane su prema supstratu koji se nakuplja u stanici i prema vrsti enzima poremećene funkcije.
Tehnike dijagnosticiranja i liječenja lizosomskih bolesti nakupljanja napredovale su posljednjih
godina, a danas se baziraju na detekciji mutacija i razvoju genske terapije.

Abstract (english)

Lysosomes are organelles involved in the breakdown of substances inside the cell and play an
important role in maintaining homeostasis. The breakdown of nutrients is a complex process
involving about 60 different enzymes. If there is an error even in one step of the process,
undegraded substances can accumulate, leading to disruption of the normal function of various
tissues and organs. Lysosomal storage diseases are inherited diseases and are caused by
mutations in genes essential for the synthesis of enzymes involved in the breakdown of different
substances. They can be divided in several ways. In this thesis they are presented according to the
substrate that accumulates in the cell and according to the enzyme affected. Techniques for
diagnosing and treating lysosomal storage diseases have advanced a lot in the latest years, and
today they are based on gene mutation detection and development of the gene therapy.

• Keywords: : lizosom; mukolipidoza II; nasljedne bolesti; lizosomske bolesti nakupljanja; metabolizam
• Keywords (english): : lysosome; mucolipidosis II; hereditary diseases; lysosomal storage diseases; metabolism
• Language: croatian
• URN:NBN: urn:nbn:hr:217:400519
• Study programme: Title: Ecology; Study programme type: university; Study level: undergraduate; Academic / professional title: sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) biologije (sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2023-09-12 11:25:32