Functional characterisation of coq8 in Drosophila : a thesis presented in partial fulfilment of the requirements for the degree of Masters of Science in Genetics, Massey University. EMBARGOED until 15 July 2020

Abstract

With the increasing number of novel mutations being discovered by whole genome and whole exome sequencing, functional studies are increasingly required to determine whether specific mutations are responsible for the disease phenotypes. Drosophila, with its vast set of genetic and molecular tools as well as robust behavioural assays, is an ideal model for functional characterisation. Coenzyme Q biosynthesis is highly conserved from yeast to humans and involves a number of genes in the enzymatic pathway including COQ8A. The role of COQ8A in CoQ biosynthesis is not clear. However, mutations in COQ8A have been associated with autosomal recessive cerebellar ataxia, which is characterised by gait ataxia, cerebellar degeneration and CoQ10 deficiency. This project aimed to characterise the phenotypes resulting from the reduction of coq8 expression (the Drosophila homologue of COQ8A) to develop a model of coq8 deficiency that could be used to characterise COQ8A mutations functionally.--Shortened abstract