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Genetic mutation in similar protein to mice and humans found to be linked to liver disease in mice


The Public Library of Science (PLoS) published an article on August 10th claiming a genetic mutation in mice that could possibly affect humans. Mutated genes that transcribe for TMED2, a protein essential for cell function, was found to be linked to liver disease in mice.

Photo credit: Yu-Chan Chen

Researchers at McGill University in Montreal, Canada manipulated genes through genetic vectors* in order to create mutations for the transmembrane emp24 domain-containing 2 (TMED2) protein.


The study utilized mice that carried the specific mutation for the disease within their chromosomes. They found that not only were there decreased levels of TMED2, but increased levels of biomarkers were found related to fatty acid synthesis. Furthermore, the mice were more likely to develop early-onset Alzheimer’s disease due to a decrease in TMED10, which forms a complex with TMED2.

The study gives a glimpse for a new look into mechanisms for genetic non-alcoholic fatty liver disease. This is because both mice and humans both share the TMED2 protein, along with many other vertebrates. Nevertheless, it should be noted that human tests should probably be conducted as mouse biology is different from human biology– genes and otherwise.

In a recent epidemiological study, non-alcoholic fatty liver disease affects about 25% of people worldwide. It can also occur not only from genes, but also diet and stress.

TMED proteins are a family of proteins that essential for sub-cellular protein trafficking, which in turns allows the cell to survive. Mutations of this family have been known to cause diseases of many kinds, such as early-onset Alzheimer’s.

*Genetic vectors are biologic organisms that incorporate foreign DNA into their system and modify it. The DNA is extracted from the organism and inserted into the test subject.

Sean Yazdani