Unit:
Κατεύθυνση Ιατρική Γενετική: Κλινική και Εργαστηριακή ΚατεύθυνσηLibrary of the School of Health Sciences
Author:
Chotroudi Anastasia
Supervisors info:
Κοσμά Κωνσταντίνα, Ακαδημαϊκή Υπότροφος, Ιατρική Σχολή , ΕΚΠΑ
Τζέτη Μαρία , Καθηγήτρια ,Ιατρική Σχολή , ΕΚΠΑ
Μακρυθανάσης Περικλής , Επίκουρος Καθηγητής, Ιατρική Σχολή , ΕΚΠΑ
Original Title:
Γενετική - κλινική ετερογένεια συνδρόμου Usher, σύνδρομο Usher1B και σύγχρονες θεραπείες
Translated title:
Genetic-clinical heterogeneity of Usher syndrome, Usher1B syndrome and modern therapies
Summary:
Introduction
There are three types of Usher Syndrome each of which draws a different clinical picture with a combination of sensorineural hearing loss and retinitis pigmentosa where vestibular dysfunction may be present or not. Symptoms for each type may differ to severity and age of onset, as different genes count for variable dysfunctions, resulting to genetic and clinical heterogeneity. There are at least ten genes associated with Usher syndrome, pointing its genetic heterogeneity, while other modifying and Usher like genes tend to join the group. Usher proteins cooperate in differentiated cells allowing specific functions. Many and different pathogenic gene variants count for protein malfunctions that manifest a clinical type. Usher 1B is the most severe type of Usher syndrome. MYO7A gene answers for 21% of Usher syndrome, encoding an unconventional myosin model, myosin 7 α. Due to genetic variants such as frameshift variants, missense variants, nonsense variants and splicing variants, myosin 7 α appears with a deficit at melanosome and phagosome transport into retina. Protein myosin 7 α is also present at inner hair cells supporting the transduction of hearing signal to cochlear nerve.
Purpose
Το study the most common gene variants accounting for Usher syndrome into different populations, as well as to understand how genetic variants to Usher genes apply for clinical types of Usher syndrome. Το offer genetic counseling and present if there are studies for a specific and suitable therapy. Finding a successful therapeutic combination for Usher syndrome still remains a challenge.
Results
Usher Syndrome is undeniably genetically and clinically heterogeneous depending on separate gene variants among both different and same population, therefore it becomes extremely difficult to create a massive and effective therapy.
Main subject category:
Health Sciences
Keywords:
Usher syndrome, Genetic- clinic heterogeneity, MYO7A gene, Gene variants, Therapies
