Scientists from the University of Pennsylvania (Penn) have successfully tested genome editing as a treatment for phenylketonuria. In this disease, the child may experience angry outbursts and the only treatment for this is to apply a special low-protein diet. Results were presented at the annual meeting American Society of Human Genetics (ASHG) in Washington.
Phenylketonuria is a rare genetic disease that affects 1 in 10-20 thousand newborns (depending on the person’s history). In this disease, the amino acid phenylalanine accumulates in the bloodstream. This condition leads to mental problems such as mental retardation, seizures, and violent outbursts. Although current treatments can relieve symptoms, they require a lifelong low-protein diet, which is very difficult for most patients.
Patients with PKU are required to maintain phenylalanine levels between 120 and 360 µmol/L, but most of the 129 people studied had levels above this range. In a new study, scientists used two different gene editing approaches to correct the mutation that causes phenylketonuria. They successfully tested this on human liver cells with phenylketonuria and also used genetic modification to reduce phenylalanine levels in mice. In all animals the level fell significantly below the threshold of 360 µmol/L. The treatment did not affect the liver function of the mice.
The research could significantly improve the lives of phenylketonuria patients, but the genome editing methods proposed by scientists need further investigation.
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