Dr Nicole Van Bergen

Biography:

Dr Van Bergen completed her PhD in 2012 at the Centre for Eye Research Australia (CERA) and Department of Ophthalmology, University of Melbourne. Dr Van Bergen investigated mitochondrial dysfunction in the retina using patient cell lines to understand the impact of mitochondrial dysfunction on the progression of several important optic neuropathies including glaucoma and hereditary eye diseases. Dr Van Bergen also studied the aging eye as a model system to assess mitochondrial dysfunction and to develop potential neuroprotective strategies to ameliorate mitochondrial dysfunction.

Awards:

2014 - Harold Mitchell Travel Fellowship
2014 – The CASS Foundation Travel Grant
2013 - University of Melbourne Early Career Postdoctoral Fellowship
2012 - Ian Potter International Travel Grant
2011 – Association for Research in Vision and Ophthalmology International Travel Award

Research:

We are assessing gene alterations (mutations) that occur in the genes linked to Rett syndrome. At present three genes are known to be involved. The names of these genes are MECP2, CDKL5 and FOXG1, with most (but not all) cases of Rett syndrome arising from mutations within the MECP2 gene. Increasingly, we suspect that other genes are also sometimes involved in cases where a mutation has not been found by the genetic diagnostic laboratory that did the testing, and recent developments in DNA sequencing technology may allow us to discover new genes not previously associated with Rett syndrome. Using a method called induced pluripotent stem cell (iPS) technology, we can activate specific genes, called transcription factors, which are able to switch cultured skin cells to muscle, nerve or liver cells. We want to test whether turning skin cells into different cell types relevant to Rett syndrome will allow us to better study the consequences of mistakes identified in these Rett syndrome genes.

Projects:

Genetic and Functional Pathogenesis of Rett Syndrome and Related Disorders.

Lim SC, Hroudova J, Van Bergen NJ, Lopez Sanchez MI, Trounce IA, McKenzie M: Loss of mitochondrial DNA-encoded protein nd1 results in disruption of complex i biogenesis during early stages of assembly. FASEB J (2016).

Coughlan MT, Nguyen TV, Penfold SA, Higgins GC, Thallas-Bonke V, Tan SM, Van Bergen NJ, Sourris KC, Harcourt BE, Thorburn DR, Trounce IA et al: Mapping time-course mitochondrial adaptations in the kidney in experimental diabetes. Clin Sci (Lond) (2016) 130(9):711-720.

Coughlan MT, Higgins GC, Nguyen TV, Penfold SA, Thallas-Bonke V, Tan SM, Ramm G, Van Bergen NJ, Henstridge DC, Sourris KC, Harcourt BE et al: Deficiency in apoptosis inducing factor recapitulates chronic kidney disease via aberrant mitochondrial homeostasis. Diabetes (2016).

Van Bergen NJ, Crowston JG, Craig JE, Burdon KP, Kearns LS, Sharma S, Hewitt AW, Mackey DA, Trounce IA: Measurement of systemic mitochondrial function in advanced primary open-angle glaucoma and leber hereditary optic neuropathy. PLoS One (2015) 10(10):e0140919.

Crombie DE, Van Bergen NJ, Davidson KC, Anjomani Virmouni S, Mckelvie PA, Chrysostomou C, Corben LA, Pook MA, Kulkarni T, Trounce IA, Pera MF et al: Characterisation of the retinal pigmented epithelium in friedreich ataxia. Biochemical and Biophysical Research Communications (2015) 2(297.

Van Bergen NJ, Blake RE, Crowston JG, Trounce IA: Oxidative phosphorylation measurement in cell lines and tissues. Mitochondrion (2014) 15(24-33.

Gunewardene N, Van Bergen NJ, Crombie DE, Needham K, Dottori M, Nayagam BA: Directing human induced pluripotent stem cells into a neurosensory lineage for auditory neuron replacement. BioResearch open access (2014) 3(162-175.

Lee S, Sheck L, Crowston JG, Van Bergen NJ, O'Neill EC, O'Hare F, Kong YX, Chrysostomou V, Vincent AL, Trounce IA: Impaired complex-i-linked respiration and atp synthesis in primary open-angle glaucoma patient lymphoblasts. Invest Ophthalmol Vis Sci (2012) 53(4):2431-2437.

Van Bergen NJ, Crowston JG, Kearns LS, Staffieri SE, Hewitt AW, Cohn AC, Mackey DA, Trounce IA: Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with opa1-linked autosomal dominant optic atrophy. PLoS One (2011) 6(6):e21347.

Lee S, Van Bergen NJ, Kong GY, Chrysostomou V, Waugh HS, O'Neill EC, Crowston JG, Trounce IA: Mitochondrial dysfunction in glaucoma and emerging bioenergetic therapies. Exp Eye Res (2011) 93(2):204-212.