Mutations in the protein Mfsd2a causes impaired brain development in humans as it carries a special type of fat called lysophosphatidylcholines.
A new research has revealed that there are certain special fats that are found in blood and are essential for human brain growth and function. The research led by Duke-NUS Graduate Medical School Singapore showed that mutations in the protein Mfsd2a causes impaired brain development in humans as it carries a special type of fat called lysophosphatidylcholines (LPCs), which is composed of essential fatty acids like omega-3.
The researchers examined that Mfsd2a mutations in two families in Libya and Egypt eliminated Mfsd2a’s ability to transport LPCs that restricted to create enough amount of LPCs to be absorbed by the brain and as a result they faced severely reduced brain size and children died between one and six years of age.
The research conducted in North Pakistan observed that person, who had reduced Mfsd2a transport activity, had microcephaly, intellectual disabilities, impaired control of their limbs, and absent speech.
Dr. David Silver, who led the research, said that their findings confirmed the essential role of LPCs in brain development and function in humans, and indicates that brain uptake of LPCs during foetal development and in adult life is important.
The research was published in Nature Genetics journal.
Source-ANI