Cardiac Disease Model Based on Stem Cells

Barth syndrome is a rare and currently untreatable cardiac disease. It affects the heart and the sceletal muscles and because it is linked to a mutation of a gene in the X-chromosome patients suffering from it are mostly male (since females have two X-chromosomes, both of them would have to carry the mutation to cause the disease in women).

A team of American scientists took skin cells of two Barth syndrome patients and converted them into induced pluripotent stem cells that carried the mutation of the gene called TAZ. These stem cells were then placed on a chip carrying biochemical support where they grew to form diseased heart tissue.

In order to confirm that the disease causes weak heart contractions the scientists used genome editing to modify the TAZ of normal cells. The TAZ product was then delivered to the diseased tissue which corrected the defect in heart contraction.

Why is this important?
This is the first tissue-based model that shows how a rare heart disease can be corrected. The knowledge derived from this model can help to develop drugs that could cure inherited cardiac diseases.

Sources:
http://www.seas.harvard.edu/news/2014/05/heart-disease-on-chip-advances-tissue-engineering
http://www.nature.com/nm/journal/vaop/ncurrent/full/nm.3545.html
http://www.iflscience.com/health-and-medicine/heart-disease-chip