Stem cells for first time used to create abnormal heart cells for study of cardiomyopathy

Jun 09, 2010

Researchers at Mount Sinai School of Medicine have for the first time differentiated human stem cells to become heart cells with cardiomyopathy, a condition in which the heart muscle cells are abnormal. The discovery will allow scientists to learn how those heart cells become diseased and from there, they can begin developing drug therapies to stop the disease from occurring or progressing. The study is published in the June 9th issue of Nature.

The Mount Sinai team used from two patients with a known by the acronym LEOPARD syndrome. Hypertrophic , or thickening of the heart muscle, is experienced by 80 percent of patients with LEOPARD syndrome and is the most life-threatening aspect of the disorder. The Mount Sinai team took patient skin cells and reprogrammed them to become pluripotent . Such cells can then develop into almost any type of cell in the human body. The researchers then created heart cells that had characteristics of hypertrophic cardiomyopathy.

"We knew there was potential in using from people with genetic disorders to develop diseases in vitro, but our study is the first to successfully create abnormal heart cells," said the Principal Investigator of the study Ihor R. Lemischka, PhD, Professor, Gene and Cell Medicine, Developmental and Regenerative Biology, Mount Sinai School of Medicine. "Now that we have developed these cells, we can study why they become enlarged and develop treatments to prevent them from overgrowing."

Scientists know that genetic disorders occur because of a mutation in a protein signaling pathway called the RAS pathway, but they have been unable to determine precisely how this results in disease-associated problems like hypertrophic cardiomyopathy. The authors of the Nature study concluded that induced pluripotent stem cell-derived provide the required characteristics to precisely determine the pathology behind these disorders, and a foundation for studying treatment interventions.

"This discovery has broad-reaching implications for genetic diseases like LEOPARD syndrome and Noonan's syndrome," continued Dr. Lemischka. "We look forward to further studying these cells as a potential therapeutic target."

Explore further: Two-armed control of ATR, a master regulator of the DNA damage checkpoint

Provided by The Mount Sinai Hospital

3.8 /5 (4 votes)

Related Stories

Heart derived stem cells develop into heart muscle

Apr 23, 2008

Dutch researchers at University Medical Center Utrecht and the Hubrecht Institute have succeeded in growing large numbers of stem cells from adult human hearts into new heart muscle cells. A breakthrough in stem cell research. ...

Researchers make stem cell breakthrough

Mar 01, 2009

In a study to be released on March 1, 2009, Mount Sinai Hospital's Dr. Andras Nagy discovered a new method of creating stem cells that could lead to possible cures for devastating diseases including spinal ...

Stem cell regeneration repairs congenital heart defect

Sep 11, 2008

Mayo Clinic investigators have demonstrated that stem cells can be used to regenerate heart tissue to treat dilated cardiomyopathy, a congenital defect. Publication of the discovery was expedited by the editors of Stem Ce ...

Recommended for you

Japanese scientist resigns over stem cell scandal

Dec 19, 2014

A researcher embroiled in a fabrication scandal that has rocked Japan's scientific establishment said Friday she would resign after failing to reproduce results of what was once billed as a ground-breaking study on ...

'Hairclip' protein mechanism explained

Dec 18, 2014

Research led by the Teichmann group on the Wellcome Genome Campus has identified a fundamental mechanism for controlling protein function. Published in the journal Science, the discovery has wide-ranging implications for bi ...

User comments : 0

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.