Yeast used as a model to understand human genetic diseases

The baker's yeast (Saccharomyces cerevisiae) is a simple living organism, functioning similarly to human cells. It is the first eukaryotic microorganism whose genome has been fully characterized. It has been used for many years as a model organism in molecular biology and genetics. For this reason, among others, a significant part of our knowledge of the cellular functioning of higher eukaryotes comes from yeast research. For instance, many human genes are able to replace their counterparts in yeast, making it easier to study their role.

 

Recently, researchers at KULeuven have identified the TMEM165 gene which, when defective, causes a rare genetic disease called CDG-TMEM165 (congenital disorder of glycosylation-TMEM165). Using yeast as a model, a team at the Louvain Institute of Biomolecular Science and Technology (LIBST) has deciphered the function of this gene. This gene encodes a protein that regulates the concentration of calcium and manganese in the cell and in particular in the Golgi apparatus. Thanks to this discovery, LIBST researchers propose that a deficiency in the transport of calcium and manganese in the secretory pathway could be the cause of the glycosylation defects observed in patients with CDG-TMEM165.

 This study is published in Journal of Biological Chemistry)

Published on May 23, 2018