Microcephaly: protein which regulates brain development found

Vincenzo Costanzo

Vincenzo Costanzo

9 July, 2015 –  For the first time, the role of the protein CEP63 in the development of the brain cortex has been proven, showing that it underlies the neuropathology called microcephaly. The research, carried out by an international99 team coordinated by the FIRC Institute of Molecolar Oncology in Milan, does not rule out a link between the protein’s malfunctioning and tumor development. The study was published in Nature Communications, and shows that in mice the absence of CEP63 causes microcephaly, i.e. a reduction of cells in the cortex, the part of the brain where higher brain functions take place in mammals. The study involved researchers from Spain, Croatia, Germany, Italy and the USA, coordinated by Vincenzo Costanzo, a molecolar oncologist at IFROM who was able to carry out this research also thanks to funding from the Giovanni Armenise-Harvard Foundation.

Read the Nature Communication paper