Genetika autizma

undergraduate thesis

• Title (english): The genetics of autism
• Author: Viktorija Tunjić
• Mentor: Petra Korać (mentor)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2015, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Autizam je heterogeni spektar neurorazvojnih poremećaja definiran na bazi tri osnovna bihevioralna simptoma: smanjene socijalne interakcije, komunikacije te sklonost repetitivnim radnjama. Postoji cijeli heterogeni niz različitih poremećaja koji se vežu uz autizam, a ukoliko se rano dijagnosticiraju, moguće ih je tretirati u najmlađoj dobi. Istraživanja na blizancima su među najpopularnijima, a pokazala su da postoji jak genetički utjecaj na razvitak simptoma autizma, osobito izražen kod jednojajčanih blizanaca. Dokazana su neka autistična svojstva i kod bliskih srodnika autista. Velik broj gena povezanih s autizmom daje zaključiti da je autizam poligenska bolest koja ne prati Mendelova načela nasljeđivanja, već su ključne interakcije mutiranih gena. Epigenetički markeri definiraju stanje kromatina i reguliraju ekspresiju mnogih gena bez utjecaja na primarnu sekvencu DNA, a dokazano je da se promjena metilacije DNA javlja uslijed određenih genetskih mutacija ili izloženosti utjecaju okoliša. Ovakva istraživanja skreću pažnju na važnost okolišnih okidača autizma, od kojih su prepoznati i neki prenatalni lijekovi. Poremećaj regulacije ekspresije gena za oksitocinski receptor moguć je uzrok manje privrženosti roditeljima opažene u brojne djece s autizmom. Ukupno gledano, uzrok autizma leži u interakciji različitih gena i okolišnih čimbenika. Buduća istraživanja trebala bi se usredotočiti na detaljniju klasifikaciju poremećaja unutar spektra autizma, a važna je i pravovremena dijagnoza.

Abstract (english)

Autism is a heterogenous spectrum od neurodevelopmental disorders defined on three basic bihevioral symptoms: impaired social interaction, comunication and a tendency for repetitive actions. There is a number of heterogenous disorders related to autism, which can be treated if diagnosed in early stages of life. Twin studies are the most common - they have proven strong genetic influence on developing autism symptoms, especially in monozygotic twins. Some autistic traits have been proven in close relatives of autistic children. Great number of genes related to autism lead to a conclusion that it is a polygenic disease which does not follow Mendelian rules of inheritance. Therefore, the key is in the interactions of certain genes that carry mutations. Epigenetic markers define the condition of chromatin and regulate the expression of genes without affecting the primary sequence of DNA. DNA methylations due to specific genetic mutations or environmental influence have been proven. These studies draw attention towards the importance of environmental triggers of autism, some of which have been recognized in several prenatal drugs. Disregulation of gene expression coding for the oxytocin receptor could be the possible cause of impaired affection noticed in many chilren with autism. Taken together, the cause of autism might be the interaction of different genes with the environmental factors. Future studies should focus on a more detailed classification of autism disorders, wherein timely diagnosis is of great importance.

• Keywords: autizam
• Keywords (english): autism
• Language: croatian
• URN:NBN: urn:nbn:hr:217:465028
• 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: 2017-12-19 08:37:28