基因疗法 z-bio 2021-11-01 345

　　Danon disease is a very rare life-threatening disease. Its cause is the loss of function of the system responsible for removing and recycling proteins in cells, which will further lead to the function of the heart, skeletal muscle, nervous system, eyes and liver. obstacle. Most patients live for only thirty years or require a heart transplant to continue their life.

　　In a new study published in the journal Science Translational Medicine, researchers at the University of California, San Diego School of Medicine have identified a new method of using gene therapy to treat Danon’s disease.

　　The lead author of the study, Dr. Eric Adler, said: “Not every patient can successfully receive a heart transplant, and heart transplantation cannot treat other organs affected by Danon’s disease. Therefore, we need to find a specific solution for the underlying cause. Therapy."

　　Danon disease is caused by mutations in the gene LAMP2. For nearly a decade, researchers at Adler and UC San Diego Health have been trying to determine whether gene therapy can provide a new treatment. Adler and his team hope to restore the function of LAMP2 in patients through gene therapy, thereby improving the function of the heart and liver.

　　“We constructed a mouse model of Danon’s disease, which lacks a specific LAMP gene. We performed gene therapy on a group of mice and compared them with mice that did not receive the treatment. The results showed that they received Gene therapy mice showed better results in terms of heart, liver, and muscle function. The overall blood output and relaxation function of the heart were improved, and the body's ability to degrade protein and metabolism was also improved."

　　Danon’s disease is more common in men, and its symptoms begin in early childhood or adolescence. The author said: "In many cases, this disease is inherited by parents (usually mothers). The incidence of Danon’s disease is actually more common than we thought, but it is often misdiagnosed. By using gene therapy, We are able to identify a possible new treatment method other than heart transplantation. This research is an important advancement for patients with Danon’s disease."