A research conducted among the members of a large family from rural Pakistan has revealed the crucial role of essential fatty acids in the growth of human brain. Essential fatty acids like omega-3 must be ingested by humans and other animals because the body cannot produce but requires them for overall good health. "This finding notifies the role of certain fats in our blood for growth of the brain. It tells us which type of fats are important for the body and how the brain absorbs them," explained professor Andrew Crosby, from the University of Exeter.
The team studied members of a family from rural Pakistan who came from the same lineage and shared common features in their DNA. Many of these family members inherited the same genetic mutation in a specific protein which impairs gene function rather than destroying it.
Individuals who inherited two copies of the gene mutation were found to have microcephaly (small head size), progressive intellectual disability, limb stiffness and absence of speech. "The findings show that mutations in this specific gene may cause impaired brain development in humans," the authors noted in the journal Nature Genetics. This specific gene is the transporter for a special type of fat called lysophosphatidylcholines (LPCs) which are composed of essential fatty acids like omega-3.
One important result of the study stemmed from the patient blood plasma samples. It permitted biochemical studies in collaboration with the study co-lead Dr David Silver from Duke-NUS Graduate Medical School Singapore.
"This pointed the role of the specific gene as the main transporter of omega fatty acids to the brain," the authors concluded.
The study was funded by the US Medical Research Council and the Newlife Foundation for Disabled Children.