A research team led by Dr. Brian R. Davis, Ph.D., director of the Center for Stem Cell and Regenerative Medicine at The University of Texas Health Science Center at Houston (UTHealth), has made an important discovery that may lead to new approaches for treating patients with cystic fibrosis (CF). The study, entitled “Targeted Correction and Restored Function of the CFTR Gene in Cystic Fibrosis Induced Pluripotent Stem Cells” was published in the latest edition of Stem Cell Reports, the official journal of The International Society for Stem Cell Research.
- Stem Cells: are unspecialized cells capable of renewing themselves through cell division and under certain physiologic or experimental conditions, they can be induced to become tissue- or organ-specific cells with special functions.
- Genetic Mutations: are a permanent alteration in the DNA sequence that makes up a gene, such that the sequence differs from what is found in most people.
About Cystic Fibrosis:
CF is a chronically progressive, life-threatening disease caused by a genetic mutation that disrupts the body’s ability to hydrate and effectively clear mucus in the lungs and/or digestive tract. According to the CDC, in the US, approximately 1,000 new cases are diagnosed each year with more than 75% of those patients under the age of two. An estimated 30,000 children and adults in the US and 70,000 worldwide have the disease. Patients diagnosed with CF have a lifespan of approximately 30 years, with many patients living into their forties.
The genetic mutation that causes CF affects the normal functioning of the lungs and digestive system by creating abnormal amounts of very sticky mucus that covers the lungs, pancreas, and other important organs of the respiratory and digestive systems. This sticky mucus attracts foreign pathogens, such as viruses and bacteria, making patients more susceptible to infectious diseases (i.e. pneumonia). The high microbial burden causes inflammation of the lung tissue and a high likelihood of tissue destruction due to the frequency of infections that most often lead to pulmonary exacerbation in these patients.
About This Study:
In this study Dr. Davis and his team utilized skin cells from patients with CF and in an experimental laboratory protocol they converted these cells into a type of stem cell called an induced pluripotent stem cell. Then they used a “cut and paste” laboratory technique in which the genetic mutation responsible for CF, CFTR, was spliced out and the result was a new line of CFTR mutation-free stem cells.
In a University press release on the importance of the study’s findings, Dr. Davis, stated, “We’ve created stem cells corrected for the cystic fibrosis mutation that potentially could be utilized therapeutically for patients. While much work remains, it is possible that these cells could one day be used as a form of cell therapy, or even further in the future, the cells might be used to generate new organs such as a lung.”