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Study from Pakistan highlights the role of special fat and its transporter gene for brain development

Posted:  Tuesday, June 02, 2015

Essential fatty acids have always been associated with good brain health and a recent European study aptly highlights this finding. The researchers found that mutation in a specific protein, seen among a Pakistani community, was associated with impaired brain development. This protein happens to be a biological transporter of a special class of fat called lysophosphatidylcholines (LCP) which are crucial for brain growth and development. 1

These results were published in the journal Nature Genetics. For the study, the researchers evaluated members from a large family from a village in North Pakistan who descended from the same lineage and had common features in their DNA. Many of the family members carried a mutation in the MFSD2A gene which impaired the functioning of the MFSD2A protein.1

Physiologically, MFSD2A protein is responsible for the transport of LCPs. Lysophosphatidylcholines are comprised of essential fatty acids such as omega 3. The researchers found that those with this gene mutation display progressive microcephaly syndrome characterized by intellectual disability, spasticity and absent speech.2 They also show increased plasma levels of LCPs indication poor uptake.

"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," concluded the researchers. 1

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