This Gene Therapy Uses Tylenol to Treat PKU and Hemophilia

Gene therapies are becoming an increasingly popular treatment for genetic diseases, especially rare ones. Now, medical professionals are trying a new strategy with gene therapy: adding acetaminophen, also known by the brand name Tylenol. This method is being employed as a treatment option for two conditions, according to a paper published in Science Translational Medicine. Phenylketonuria (PKU) and hemophilia have both been successfully treated with this new method.

About Gene Therapy and Tylenol

A benign lentivirus serves two purposes in this gene therapy: deliver corrections to the mutations that cause the disease and make liver cells immune to Tylenol. This way, these cells are protected while unwanted cells are destroyed by the Tylenol, allowing the liver cells to multiply. Because acetaminophen is commonly available and so much less toxic than other therapies (eg. chemotherapy), it is extremely useful within gene therapy.

This new method, created by Dr. Markus Grompe and colleagues at the Oregon Health & Science University School of Medicine, is more durable than the traditional strategy used in gene therapy. Typically, these types of treatment utilize an adeno-associated virus (AAV). The issue arises when it is being used in cells that multiply, as they dilute the therapy’s effect as time passes. Because of this, AAV-based gene therapies are more useful in disorders that impact brain or eye cells, as they do not reproduce.

With Dr. Grompe’s method, the genetic corrections delivered by the lentivirus are able to be passed to the new cells, while unwanted cells are killed off by the Tylenol. This allows doctors to administer lower doses to patients. In fact, doses are about a tenth of the size of the typical AAV-based gene therapy.

Looking Forward

Not only is this new method extremely useful in treating rare, genetic diseases, but it can also be applied to other gene therapies. Tylenol can be integrated into AAV-based gene therapies, which could lead to viable treatments for many other disorders.

In addition, this therapy may prevent a number of patients from requiring liver transplants. As these procedures are stressful and carry risks, it is better to utilize other treatments if possible. This new gene therapy could also cut the cost of treatment and be used to treat other genetic disorders in the future.

About PKU

Phenylketonuria (PKU) is a rare, genetic condition that is characterized by the accumulation of the amino acid phenylalanine. This buildup leads to symptoms that begin within the first few months of life, such as decreased bone strength, seizures, developmental delays, hyperactivity, heart defects, intellectual delays, skin rash, microcephaly, musty odor, and fair skin and eyes. These symptoms happen due to a recessive mutation in the gene responsible for the formation of the enzyme phenylalanine hydroxylase. This enzyme is needed to break down phenylalanine.

In terms of treatment, early detection yields the best results. Dietary changes are the main form of treatment, as affected individuals should avoid ingesting high-protein foods that contain the amino acid phenylalanine. This diet may contain adult formula supplements, specialized baby formula for infants, and other PKU-friendly foods. Additionally, doctors should closely monitor a patient’s levels of phenylalanine in the blood and administer Kuvan.

About Hemophilia

Hemophilia is a blood disorder in which the blood does not clot normally, leading an affected individual to bleed more heavily and for longer periods. It is more likely to impact males and can cause injuries that would typically be labeled as minor to become major. There are two forms of this condition: hemophilia A and hemophilia B. They are distinguished by their causes, as each type is the result of a lack of a certain clotting factor. The mutated genes are passed down in an X-linked recessive pattern in both disorders. Hemophilia A is caused by an altered F8 gene, which leads to a dearth of clotting factor VIII, while hemophilia B is caused by the F9 gene, which results in low amounts of clotting factor IX.

Regardless of the type of hemophilia one has, symptoms include random nosebleeds, excessive/prolonged bleeding, easy bruising, pain and swelling in the joints, and blood in the urine/stool. Infants with this condition may present with irritability. In an emergency, symptoms grow to include intense headache, extreme fatigue, double vision, vomiting, sudden pain and swelling in the joints, and neck pain. Treatment for this condition consists of physical therapy, plasma and blood transfusions, hormone treatments, first aid for minor wounds, and medications. There is currently no cure for hemophilia.

Find the source article here.

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