Disease Area Lab News & Events Research Area April 10, 2015

Research at the Perkins is leading the way in its field by providing a new understanding of fatty liver disease, which is an increasing health problem in Western countries.

Perkins researcher, Dr Tara Richman from the Mitochondrial Medicine and Biology Laboratory, was lead author on the paper Mutation in MRPS34 Compromises Protein Synthesis and Causes Mitochondrial Dysfunction, recently accepted for publication by respected journal, PLOS Genetics.

“This is the first time we’ve really looked at the strong influence that mitochondria have on fatty liver disease, Dr Richman said.

Mitochondria are the tiny, energy producing machines which are found in all cells and their dysfunction causes a number of diseases and disorders. The parts of the body which are affected the most severely by mitochondrial dysfunction are the ones which use the most energy.

Dr Richman and her colleagues studied a protein called MRPS34 and found that it was crucial for the proper functioning of mitochondria. They were then able to look at the physical effects of a mutation, which caused reduced levels of MRPS34 in a pre-clinical model.

“It’s been very interesting to see through our work in the laboratory that even though there may be a mutation in the mitochondria in other cells of the body, the liver is most severely affected, Dr Richman said.

“This may be due to the fact that proteins synthesise faster in the liver than in other organs such as the heart, so this is a big step forward in our understanding.

“We now have a great model for future testing of treatments for fatty liver disease.”

Fatty liver is a condition in which fat builds up within liver cells and is a common health problem in countries where there’s a high rate of obesity among adults.

The condition can lead to potentially fatal conditions including liver cirrhosis, heart attacks and strokes.

Read more here.