Study finds gene mutation that turns familiar faces into strangers

Sub: Science and tech

Sec: Biotech

Context:

According to research published in this month’s issue of the journal Genetics, when MCTP2 gene is mutated the ability to recognise faces is severely impaired.

More on news:

Prosopagnosia, also called face blindness, is a condition where you have difficulty recognising people’s faces.
Its prevalence worldwide is estimated to be 1.8-2.9% in the general population.
Prosopagnosia is one form of visual agnosia, or inability to identify everyday items just by looking at them.
The MCTP2 gene is thus the first found to be required for a higher form of visual social cognition in humans.

Face recognition and a gene:

By sequencing the genomic DNA, the researchers found that the MCTP2 gene, located in this segment, had been altered by a mutation.
As a result, one amino acid in the protein encoded by the MCTP2 gene had been replaced by another.
In the brain, the right middle fusiform gyrus, a.k.a. the fusiform face area (rFFA), is activated during facial recognition.
When the researchers used functional magnetic resonance imaging to study individuals carrying the different MCTP2 mutations, they found abnormal responses in the rFFA.

What is MCTP2 gene:

Multiple C2 domains, transmembrane 2 is a protein that in humans is encoded by the MCTP2 gene.
MCTP2 encodes a protein with poorly understood roles in lipid metabolism and lipid droplet biogenesis.