Disease caused by reduction of most abundant cellular protein identified

Dr Siddharth Banka has led an international team of scientists and doctors to identify a new disease that results in low levels of a common protein found inside our cells. The study was published in the reputed American Journal of Human Genetics.

β-actin is the cell’s most abundant protein, providing shape and allowing them to move. It is fundamental to a number of biological functions. The team say the new disease is caused by gene mutations which result in half of the normal β-actin levels.

Dr Sara Cuvertino, a Research Associate at The University of Manchester and first author of the paper, said:

β-actin is so vital to our cells that it was very surprising for me that patients could still survive on just half the normal levels of this critical protein.

Read more about the study into this rare genetic disease on the MFT Research & Innovation Website.