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Researchers One Step Closer To Personalized Medicine

Update Date: May 12, 2014 09:34 AM EDT

Researchers at Harvard have merged stem cell and 'organ-on-a-chip' technologies to grow functioning human heart tissue carrying an inherited cardiovascular disease.

Researchers said the research is a big step forward for personalized medicine as the findings are the working proof that a chunk of tissue containing a patient's genetic disorder can be replicated in the laboratory. 

Researchers modeled the cardiovascular disease Barth syndrome - a rare X-linked cardiac disorder caused by mutation of a single gene called Tafazzin, or TAZ. 

The disorder has no cure as of now and it primarily appears in boys. TAZ is also associated with a number of symptoms affecting heart and skeletal muscle function. 

"You don't really understand the meaning of a single cell's genetic mutation until you build a huge chunk of organ and see how it functions or doesn't function," said Kevin Kit Parker, PhD, who has spent over a decade working on 'organs-on-chips' technology, in the press release. "In the case of the cells grown out of patients with Barth syndrome, we saw much weaker contractions and irregular tissue assembly. Being able to model the disease from a single cell all the way up to heart tissue, I think that's a big advance."

Researchers also discovered that the TAZ mutation works in such a way to disrupt the normal activity of mitochondria - power plants of the cell, known for producing energy. They added that the mutation didn't affect overall energy supply of the cells. 

"The TAZ mutation makes Barth syndrome cells produce an excess amount of reactive oxygen species or ROS-a normal byproduct of cellular metabolism released by mitochondria-which had not been recognized as an important part of this disease," said William Pu, MD, who cares for patients with the disorder.

The research has been published in the Nature Medicine.

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