New breakthrough in understanding how fatty acids can help brain growth and function

Published: 29-May-2015

Study reveals that intellectual disability can occur when the gene responsible for transporting specific fatty acids develops mutations


Thanks to a new research project part-funded by Newlife Foundation for Disabled Children, we now have a greater understanding of the crucial role that a special type of fatty acid plays in human brain growth and function, which could lead to a new focus for the potential treatment of certain neurological disorders.

The study revealed that intellectual disability can occur when the gene responsible (Mfsd2a) for transporting these fatty acids develops mutations.

A team co-led by Professor Andrew Crosby, from the University of Exeter Medical School working with experts in Singapore and funded by Newlife and the Medical Research Council, conducted research in North Pakistan.

They discovered that Mfsd2a is the transporter in the brain for a special type of fat called lysophosphatioycholines, which is made up of essential fatty acids such as omega-3 and is very important for the human brain's growth and function.

Individuals who inherited two copies of the gene mutation were found to have microcephaly (small head size), progressive intellectual disability, limb stiffness and absent speech.

Professor Michael Patton, Trustee and Medical Director at Newlife Foundation and a founding member of the Newlife Charity commented: 'Last March Newlife pledged to spend more than a £1 million on research into intellectual disability to help make important breakthroughs like this one. This will hopefully lead to opportunities to halt or reverse causes of intellectual disability in certain conditions.'

Professor Andrew Crosby, from the University of Exeter Medical School, who led the study, said: 'We are grateful for the funding provided by Newlife and the Medical Research Council as these findings will really benefit families of children with conditions in this area.'

'This exciting finding teaches us about the crucial role that certain special fats in our blood play in brain growth development. It tells us which types of fats are important and teaches us how the brain absorbs them. Although we discovered the gene in families from Pakistan, there will be people elsewhere in the world who also have this condition, and others like it. These findings provide us with a new focus for the potential treatment of these neurological disorders in the future,' he added.

Thanks to medical research, technology and the skills of our healthcare and welfare professions, the lives of babies and children who would have died a few years ago are now being saved.

Further research is needed to save more lives. That is why Newlife funds vital medical research to help understand, prevent and treat such conditions. Without continued research we will not be able to improve child health and save children from facing loss of ability and inevitably loss of their lives. That is why Newlife has invested over £15 million in 284 research projects with 98 institutions since 1994.

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