A new link between cerebral palsy and genetic mutation could be the biggest breakthrough in 20 years,
South Australian researchers say.
A trial by Adelaide University’s Robinson Institute has found that a large number of cerebral palsy cases are
caused by a genetic mutation.
It challenges the long-held belief that the condition is caused by a lack of oxygen during pregnancy or at birth.
Institute researchers hope the breakthrough will lead to the condition being detected during or even before
pregnancy, allowing for earlier treatment.
The study
Genetic sequencing uncovered DNA mutations in at least 14 per cent of cases, and Emeritus Professor Alastair MacLennan believes that further analysis will show the genetic link is in fact much higher.
The veteran researcher says this finding is a dramatic change in diagnosis for what has long been thought a problem related to childbirth.
“The lay myth and the legal myth has been that it’s due to birth asphyxia.
"But in fact very few are due to acute lack of oxygen at birth and many more are really due to a genetic mutation,” Prof. MacLennan has told SBS.
Published in the prestigious journal Nature, the discovery could reduce litigation against obstetricians.
Work is now underway to develop a screening test for early detection, and potential replacement of faulty genes with sound ones.
“To prove that a gene is causing Cerebral Palsy, we put it into zebra fish and they lose their motility, then we put the real gene back and it rescues that motility - it’s not a huge step to realise that might be possible in the human,” Professor MacLennan says.
The University has established a world first bio-bank which stores the genetic material of 400 families affected by Cerebral Palsy.
The DNA bank is helping researchers to pinpoint the 100 or so genes implicated in the illness.
Living with Cerebral Palsy
Seven-year-old Matthew Reinertsen was born 15 weeks premature and with Cerebral Palsy.
“I want to be a fireman, a doctor, and surfing – I just catch some big waves in the water,” says Matthew.
The condition, which affects movement and can also cause intellectual disabilities, epilepsy, autism and schizophrenia, means Matthew’s life is much harder than his two sisters.
“Our hope for Matthew is that he can be independent to the best that the can be, whether that’s just helping himself to get dressed, feeding himself and being able to get out and about - that would be great,” Matthew's mother Maria Reinertsen said.
Ms Reinertsen says this scientific discovery is too late for Matthew but could be a huge help for thousands of other families.
“It’s just heartbreaking to watch your child have such struggles in life, the pain that they go through. It affects the whole family.”
-With AAP
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