Genetics study identifies new cause of physical deformity

21 June 2018

A Children’s Health Queensland researcher has helped identify a new rare genetic disorder that reduces the production of cholesterol in children, causing physical deformities and developmental delays.

Currently, there are only three known cases of the condition, known as Squalene Synthase Deficiency, in the world – two siblings from Australia, and one child in the USA.

The eight-year study by Professor David Coman, senior medical officer of metabolic medicine at Lady Cilento Children’s Hospital, and Dr James Pitt from Murdoch Children’s Research Institute, discovered that mutations in the gene FDFT1 prevent children from producing enough cholesterol.

Along with dietary cholesterol, cholesterol is produced naturally by the body and is needed for normal foetal and childhood development.

“We all know that too much dietary cholesterol is a bad thing, but not being able to produce enough cholesterol is even worse,” Prof Coman said.

“Cholesterol acts as a ‘signalling’ molecule, providing instructions for tissue growth and development, so not producing enough can lead to physical malformations and delays in childhood development”.

Prof Coman and Dr Pitt, along with colleagues from the Children’s Hospital at Westmead in Sydney, the US and the Netherlands, studied the three known cases, characterised with brain abnormalities, seizures, webbed feet, genital malformations, and delayed development.

The research team developed a urine test which identified a characteristic biochemical profile in the children’s urine.

The test can be incorporated into existing urine testing that is routinely performed on children with these symptoms to help identify future cases.

Prof Coman said further research into how the genetic defect blocks cholesterol production could help develop new cholesterol lowering drugs, as well as treatments for existing diseases causing premature aging, such as Alzheimer’s disease.

The study has been published in the latest issue of the prestigious American Journal of Human Genetics. 


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