I completed my undergraduate degree in Applied Biology (BSc Hons) at Northumbria University before studying for my Medical Genetics MRes at Newcastle University. It was within the Wellcome Centre that I completed my research project, and was introduced to Mitochondrial research, using NGS to gain an insight into the molecular genetic analysis of nuclear-encoded genes of mitochondrial disease patients. From there I was able to functionally characterise numerous mutations, including two novel mutations.
After a 3 year break from science, I have returned to the Mitochondrial Research Group via funding provided by L’Oreal UNESCO for Women in Science. My role as a Laboratory Technician includes aiding in numerous projects which all concentrate on the pathogenic mtDNA variant, m.3243A>G.
Identification of nuclear factors modulating the clinical phenotype of m.3243A>G-related mitochondrial disease.
Principal Investigators: Dr Sarah Pickett
Other Team Members: Roisin Boggan, Imogen Franklin
The projects I assist all concentrate on the pathogenic variant m.3243A>G, particularly identifying variants in the nuclear genome that modify m.3243A>G-related disease. The m.3243A>G mutation is one of the most common pathogenic variants in the mitochondrial genome and therefore is the most common cause of mitochondrial disease in adults. It is associated with a wide range of clinical phenotypes, including seizures, strokes, diabetes, deafness, and cerebellar ataxia, as well as MELAS; a genetic condition which affects many of the body’s symptoms.
This vast array of phenotypes suggests an unidentified influence outside of mitochondrial DNA involvement. Family studies also suggest that nuclear variation influences clinical outcome. Therefore in order to confirm this, whole genome sequencing of a large m.3243A>G clinical cohort, and further analyses will be utilised to identify and assess these potential nuclear modifiers.
Sponsor/Funder: L’Oreal UNESCO for Women in Science
Alston, CL, Veling, MT, Heidler, J, Taylor, LS, Alaimo, JT, Sung, AY, He, L, Hopton, S, Broomfield, A, Pavaine, J, Diaz, J, Leon, E, Wolf, P, McFarland, R, Prokisch, H, Wortmann, SB, Bonnen, PE, Wittig, I, Pagliarini, DJ & Taylor, RW 2020, ‘Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency’, American Journal of Human Genetics, vol. 106, no. 1, pp. 92-101. https://doi.org/10.1016/j.ajhg.2019.12.001.
Alston, CL, Heidler, J, Dibley, MG, Kremer, LS, Taylor, LS, Fratter, C, French, CE, Glasgow, RIC, Feichtinger, RG, Delon, I, Pagnamenta, AT, Dolling, H, Lemonde, H, Aiton, N, Bjørnstad, A, Henneke, L, Gärtner, J, Thiele, H, Tauchmannova, K, Quaghebeur, G, Houstek, J, Sperl, W, Raymond, FL, Prokisch, H, Mayr, JA, McFarland, R, Poulton, J, Ryan, MT, Wittig, I, Henneke, M & Taylor, RW 2018, ‘Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency’, American Journal of Human Genetics, vol. 103, no. 4, pp. 592-601. https://doi.org/10.1016/j.ajhg.2018.08.013