PNAS: iPS cells plug wings for disease research

According to a new study from the University of Maryland School of Medicine, scientists used a new method to construct a model of the genetic disease Gaucher disease (also known as Gaucher disease) using adult stem cells, which will help speed up the discovery of this A more effective new treatment for diseases and other diseases such as Parkinson's disease. The research paper was published in the Proceedings of the American Academy of Sciences (PNAS) on October 15.

Scientists at the University of Maryland School of Medicine have reprogrammed the cells to make them genetically similar and respond to drugs in a similar way to patient cells. These stem cells will enable scientists to detect potential new therapies in petri dishes and accelerate the process of drug discovery.

Dr. Ricardo Feldman, an associate professor of microbiology and immunology at the University of Maryland School of Medicine and a researcher and senior author at the Center for Stem Cell Biology and Regenerative Medicine at the University of Maryland, said: "We have constructed all three forms of Gaucher's disease. Basic tests evaluate the effectiveness of the treatment. We believe this will allow us to test more drugs faster, more accurately, and more safely, bringing us closer to new treatments for patients with Gaucher ’s disease. Our study found that there are also May help patients with other neurodegenerative diseases. For example, about 10% of carriers of Parkinson ’s disease have a recessive gene mutation in Gaucher ’s disease, making our research potentially equally relevant to Parkinson ’s.

Gaucher's disease is one of the most common lipid storage diseases. One out of every 50,000 people in the total population is affected by the disease. It is most common among Ashkenazi Jews, and about one in every 1,000 people in this particular population is affected. There are three subtypes of this disease: Type 1 is the mildest and most common form, causing liver and splenomegaly, anemia and bone diseases. Type 2 can cause very serious brain abnormalities, usually leading to death before 2 years of age. Type 3 can affect children and adolescents.

Feldman said that the disease is a recessive genetic disease, which means that both parents must be carriers, and their children will suffer from Gaucher's disease. However, the study found that people with only one copy of the Gaucher disease mutant gene-these people are called carriers-are at increased risk of developing Parkinson's disease.

E. Albert Reece, vice president of medical affairs at the University of Maryland, dean of the University of Maryland School of Medicine, and famous professor said, "This science reflects the mission of the University of Maryland School of Medicine, which is to bring new treatments from the experimental table to the bed as soon as possible Taken from the laboratory to the patient. We are very pleased to see where this trial will go next, bringing new hope to Gaucher's disease patients and their families. "

Dr. Feldman and colleagues took advantage of the new reprogramming technology developed by this year's Nobel Prize winner in medicine / physiology. Scientists manipulate skin cells from patients with Gaucher's disease to construct human iPS cells. Scientists differentiate these cells to form white blood cells called macrophages and nerve cells.

A key function of macrophages in the body is to take up and remove damaged or aged red blood cells. In Gaucher's disease, macrophages cannot do it. They cannot digest the lipids present in the red blood cell membrane. Macrophages engulf lipids in large quantities without completely removing the ingested red blood cells. This leads to blockage of macrophage membrane transport signals in the bone marrow, spleen, and liver. Scientists used reprogrammed stem cells to produce macrophages that showed this unique signature from macrophages from patients with Gaucher's disease.

To further test these stem cells, the researchers gave a recombinant enzyme that can effectively treat patients with type 1 Gaucher's disease. When the cells were treated with this enzyme, the functions of the macrophages were restored and they completely cleared the red blood cells.

Dr. Curt Civin, founding director and associate dean of research at the Center for Stem Cell Biology and Regenerative Medicine at the University of Maryland School of Medicine, and professor of pediatrics and physiology, said: "Creating these stem cell lines is an interesting part of stem cell research. Feldman used these Gao Xue Disease-derived macrophages better understand the principles of the disease and find new drugs for the treatment of Gaucher's disease. The main goal of our stem cell biology and regenerative medicine center is to translate our basic findings into innovative and practical The clinical application of sex will enhance the understanding of the diagnosis, treatment and prevention of many human diseases. Clinical applications include not only stem cell transplantation, but also the use of stem cells for drug discovery. Dr. Feldman's research has so perfectly confirmed this. "

"We look forward to testing new drugs on these cells and obtaining new treatments for patients," Dr. Feldman said.

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