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Neurogenetics Group

The Neurogenetics Group
Members of the Neurogenetics Group

Group head

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Overview of research program

Our group investigates the pathogenic mechanisms involved in neurogenetic disorders with a particular interest in mitochondrial function and movement disorders. Genetic and biochemical approaches are employed to identify the molecular basis of neurogenetic disease. The group provides diagnostic support for a tertiary referral clinic for mitochondrial and movement disorders and our research focus is to develop new therapies to treat various types of neurogenetic disease. We are also the Sydney node of the National Centre for Adult Stem Cell Research.

Current studies include the identification of new mtDNA mutations associated with mitochondrial diseases, development of new biochemical assays that may lead to better diagnosis of Parkinson’s disease, validation of a genetic (DNA) chip for the improved diagnosis of genetic forms of Parkinson’s disease, work to improve our understanding of the mechanisms of neuronal dysfunction in patients with both mtDNA and nDNA encoded mitochondrial disorders, epidemiological studies to determine the prevalence of genetic forms of Parkinson’s disease and the development of a new neuronal model to study neurogenetic disease.

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Research outcomes

  • Identification of rare genetic forms of mitochondrial disease
  • Identification of genetic markers that influence the age of onset of Parkinson’s disease
  • Discovery of the prevalence of mitochondrial disease associated with MELAS 3243A>G mutation
  • Demonstration that mitochondrial haplogroups are risk factors for age-related hearing loss and age-related maculopathy
  • Demonstration that mitochondrial haplogroups modifiy other risk factors for age-related hearing loss and age-related maculopathy
  • Identification of patients with LRRK2 gene mutations
  • Identification of a novel LRRK2 gene mutation
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Major funding sources

  • National Health & Medical Research Council
  • NSW Parkinson’s Disease Association
  • Northern Sydney Area Health Service
  • National Centre for Adult Stem Cell Research
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Selected Publications

Vandebona H, Mitchell P, Manwaring N, Griffiths K, Gopinath B, Wang JJ, Sue CM. Prevalence of the Mitochondrial 1555 A>G mutation in Adults of European Descent. NEJM, In press.

Manwaring N, Wang JJ, Mitchell P, Sue CM. Mitochondrial DNA disease prevalence: Still underrecognized? Ann Neurol. 2008 Oct; 64 (4):471.

Mehta P, Kifley A, Wang JJ, Rochtchina E, Mitchell P, Sue CM. Population prevalence and incidence of Parkinson's disease in an Australian community. Intern Med J. 2007 Dec;37(12):812-4.

Manwaring N, Jones MM, Wang JJ, Rochtchina E, Howard C, Newall P, Mitchell P, Sue CM. Mitochondrial DNA haplogroups and age-related hearing loss. Arch Otolaryngol Head Neck Surg. 2007 Sep;133(9):929-33.

Jones MM, Manwaring N, Wang JJ, Rochtchina E, Mitchell P, Sue CM. Mitochondrial DNA haplogroups and age-related maculopathy. Arch Ophthalmol. 2007 Sep;125(9):1235-40.

Manwaring N, Jones MM, Wang JJ, Rochtchina E, Howard C, Mitchell P, Sue CM. Population prevalence of the MELAS A3243G mutation. Mitochondrion. 2007 May;7(3):230-3.

Huang Y, Halliday GM, Vandebona H, Mellick GD, Mastaglia F, Stevens J, Kwok J, Garlepp M, Silburn PA, Horne MK, Kotschet K, Venn A, Rowe DB, Rubio JP, Sue CM. The prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's disease. Mov Disord. 2007 May 15;22(7):982-9.

Shepherd RK, Checcarelli N, Naini A, De Vivo DC, DiMauro S, Sue CM. Measurement of ATP production in mitochondrial disorders. J Inherit Metab Dis. 2006 Feb;29(1):86-91.

Williams JC, Sue CM, Banting GS, Yang H, Glerum DM, Hendrickson WA, Schon EA. Crystal structure of human SCO1: Implications for redox signalling by a mtiochondrial cytochrome c oxidasw “assembly” protein. J Biol Chem. 2005 280(15):15202-11.

Sue CM, Karadimas C, Checcarelli N, Tanji K, Papadopoulou LC, Pallotti F, Guo FL, Shanske S, Hirano M, De Vivo DC, Van Coster R, Kaplan P, Bonilla E, DiMauro S. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2. Ann Neurol. 2000 May;47(5):589-95.

Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Coster RV, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet. 1999 Nov;23(3):333-7.

Sue CM, Tanji K, Hadjigeorgiou G, Andreu AL, Nishino I, Krishna S, Bruno C, Hirano M, Shanske S, Bonilla E, Fischel-Ghodsian N, DiMauro S, Friedman R. Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. Neurology. 1999 Jun 10;52(9):1905-8.

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Major collaborations

  • Alan Mackay-Sim (Griffith University, Qld)
  • Glenda Halliday (Prince of Wales Medical Research Institute, NSW)
  • Christine Klein (University of Luebeck, Germany)
  • Justin Rubio (Howard Florey Institute, Vic)
  • Paul Mitchell (Centre for Vision Research and Save the Sight Institute, NSW)
  • John Christodoulou (Children’s Hospital Westmead, NSW)
  • David Thorburn (Murdoch Childrens Research Institute, Vic)
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