Dec 21,2014: According to scientists at STAR’s Institute of Medical Biology (IMB) and Institute of Molecular and Cellular Biology (IMCB), a genetic pathway has a pivotal role in the extraordinary size of the human brain.
A vibrant team led by Dr Bruno Reversade from A STAR in Singapore including the scientists of Harvard Medical School, have discovered that a gene, KATNB1 is a prime component in a genetic pathway responsible for the development of central nervous system in humans and other animals.
With the help of sequencing the genome of individuals of normal height having a very small head size, the international team revealed that these individuals had mutations in the KATNB1 gene, indicating that this gene is important for proper human brain development. Microcephaly (literally meaning “small head” in Latin) is a condition often associated with neurodevelopmental disorders. Measured at birth by calculating the baby’s head circumference, a diagnosis of microcephaly is given if it is smaller than average.
The 2014 December online issue of Neuron has published their results revealing other experiments that were conducted to determine the function of KATNB1, whose exact mode of action was previously unknown in humans.
Using organisms specifically designed to lack this gene, they realised that KATNB1 is crucial for the brain to reach its correct size. Zebrafish and mice embryos without this gene could not live past a certain stage and showed dramatic reduction in brain and head size, similar to the human patients.
Their results were published in the 17 December 2014 online issue of Neuron. A STAR AGENCY OF SCIENCE, TECHNOLOGY AND RESEARCH