Scientists have identified a rare disease caused by a decrease in the level of common cellular proteins

Recently, a study published in the International Journal The American Journal of Human Genetics, researchers from University of Manchester identified a new disease that can be induced by a decrease in the level of protein in the cell β - actin is one of the most abundant proteins in cells It is responsible for cell morphology, but also promotes cell movement, which is very important for many biological functions in cells The researchers found that the new disease was induced by a gene mutation that halved the level of normal β - actin Dr Sara cuvertino said that β - actin is very important for human cells Of course, we are also surprised to find that some patients can survive when they only have half the normal β - actin level in their body Although patients born with the disease may show signs of retardation, heart and kidney abnormalities, it is worth noting that some of these patients can also live a normal life Of course, some affected individuals will have neurological problems such as epilepsy In this paper, the researchers studied the patients affected by this disease and found that there are many subtle defects in the patients' body, such as abnormal cell morphology, reduced mobility and division ability The researchers described 33 patients, which is a large number for the number in the first article describing rare genetic diseases They also hope to find more patients globally through later research, which may not be diagnosed at present In this paper, researchers' research on patients with this rare disease may provide relevant research clues to help them clarify the mechanism of this rare disease later and provide new clues for the development of corresponding therapies Now researchers at Banka's team are looking at how a decrease in beta actin levels can trigger rare diseases, with the aim of developing new treatments for the disease At present, researchers do not have special methods to deal with this rare disease However, patients should first consult their general practitioner, and then the doctor introduces them to the local geneticist for help.