My role within the Mitochondrial Research Group is a Research Technician, providing support to Professor Doug Turnbull’s group in all areas of histology. I work alongside Dr Nichola Lax on projects focusing on the neuropathology of mitochondrial disease, and assist in the training of students in histological techniques.
I initially trained as a Biomedical Scientist in a diagnostic laboratory, before moving on to pursue an interest in research and taking a post with the Mitochondrial Research Group. Having worked with Nichola throughout her PhD, I have become more involved in research into neuropathology of mitochondrial disease, and find it a very interesting and challenging area of research to be involved in.
Neuropathology of Mitochondrial Disease
Mitochondrial disease is one of the most frequently inherited neurological disorders, with affected individuals demonstrating a range of clinical features such as ataxia, seizures, cognitive decline, blindness and stroke.
Mutations of mtDNA can arise as a consequence of faults in the mtDNA replication process, or via maternal inheritance. The result is an impairment of the oxidative phosphorylation pathway, responsible for conversion of glucose in to ATP, and therefore reduced availability of ATP for cellular metabolic function.
Brain, nerves and muscle are particularly susceptible, as being highly metabolically active these cells have a high energy demand. Pathology observed in the brain of affected individuals includes atrophy, neuron loss, lesions, white matter demyelination, gliosis and vascular changes.
Our work attempts to understand the molecular mechanisms underlying these changes, and investigate the relationship between neuropathology and mitochondrial dysfunction. Our hope is that a greater understanding of disease progression could potentially open doors in terms of potential treatment strategies for these patients
Sponsor/Funder: Newcastle Biomedical Research Centre
Lax NZ, Pienaar IS, Reeve AK, Hepplewhite PD, Jaros E, Taylor RW, Kalaria RN, Turnbull DM. Microangiopathy in the cerebellum of patients with mitochondrial DNA disease. Brain. 2012 Jun;135(Pt 6):1736-50. Epub 2012 May 9
Reeve AK, Park TK, Jaros E, Campbell GR, Lax NZ, Hepplewhite PD, Krishnan KJ, Elson JL, Morris CM, McKeith IG, Turnbull DM. Relationship between mitochondria and α-synuclein: a study of single substantia nigra neurons. Arch Neurol. 2012 Mar;69(3):385-93.
Lax NZ, Hepplewhite PD, Reeve AK, Nesbitt V, McFarland R, Jaros E, Taylor RW, Turnbull DM.Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study. J Neuropathol Exp Neurol. 2012 Feb;71(2):148-61
Lax NZ, Whittaker RG, Hepplewhite PD, Reeve AK, Blakely EL, Jaros E, Ince PG, Taylor RW, Fawcett PR, Turnbull DM. Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. Brain. 2012 Jan;135(Pt 1):62-71. Epub 2011 Dec 20