Rett Syndrome and related genes
Dr Nicole van Bergen
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. One problem that we sometimes encounter when we find an alteration in one of these genes is that it is not possible to conclude whether the alteration is responsible for the occurrence of Rett syndrome or, in fact, is simply a rare variation within the gene that does not disturb the normal function of the gene.
As our understanding of the biology of Rett syndrome improves, new potential therapies may be identified. By using tissue samples, specifically cultured cells established from a skin biopsy, we hope to be able to evaluate the potential usefulness of these new therapies.
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.
There are still no biochemical markers of Rett syndrome. We plan to subject blood and urine samples to high throughput screening techniques in the hope that we may identify protein or other chemical markers of Rett syndrome. Such biomarkers may have the potential to be used as an early screening test for Rett syndrome.
- Dr Ken Pang
- Dr Nicole van Bergen, Research Officer
- Ms Simran Kaur, PhD Candidate
- Ms Lucy Liu, MA Candidate
- Metabolic Research Group – Kids Research Institute, Sydney Children’s Hospitals Network
- Professor David Ravine – School of Pathology and Laboratory Medicine, University of Perth
- Professor Helen Leonard – Telethon Kids Institute, Perth
- Dr David Godler, Murdoch Children’s Research Institute
- Dr Carolyn Ellaway, Children's Hospital at Westmead, Sydney, Australia
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