According to a report by CheckOrphan, a recent study investigated the use of genome editing directly in the body. The research involved the use of these editing techniques in cases of Hunter syndrome in a small group of patients. The data from the study suggests that the technique is safe for use, but it is too early to make definite claims. Keep reading to learn more, or follow the original story here for more information.
What is Hunter Syndrome?
Hunter syndrome is a progressive, debilitating disorder. It is also known as mucopolysaccharidosis type two or MPS II. Hunter syndrome is transmitted by a mutation occurring on the X chromosome. As a result, it primarily affects male children. The rate of progression varies from patient to patient. Some decline quickly, while others are able to live longer with the proper respiratory and cardiac therapies.
Symptoms of Hunter syndrome typically appear between the ages of two and four. Physical symptoms may include broad nose, enlarged tongue, and large rounded cheeks. Due to enlargement of the vocal cords, people living with Hunter syndrome often have deep, hoarse voices. Other symptoms include narrowing nasal passageways, macrocephaly, enlarged spleen, and inguinal hernia.
People living with Hunter syndrome lack an important gene. This gene normally creates an enzyme used in the breakdown of complex sugar molecules. Without the ability to process these sugars (known as mucopolysacharides) they build up in the body. When the sugars accumulate, it results in significant damage to key organs. The brain, lungs, and heart may all be affected by this kind of buildup.
But what if we could fix that missing gene? Researchers set out to do just that. In a group of four patients, researchers administered an infusion of healthy gene copies. The infusion also included an enzyme that inserted the gene into the correct location inside the patient’s DNA.
While it is still too early to know for certain how effective the treatment is, some positive effects were observed. Two patients received a medium dose of the treatment. Levels of the dangerous sugar compounds decreased by as much as half in these cases. Two other patients received a low dose. In these cases, no noticeable different was observed. This suggests the treatment’s effect is variable dependent on dosage. While no negative consequences of treatment were observed researchers remain cautious given the size of the test group and the short length of time that has passed since the study concluded.