Parkinson's disease (PD) is a progressive disorder that affects the motor system. Despite rapid progress in recent years, he genetic contribution to PD has not been completely understood. An international research team led by Dr Wolfdieter Springer at Mayo Clinic has found that a single mutation in the PINK1 gene is able to increase the risk of Parkinson's disease (PD), a long-term disorder that affects the motor system. Earlier research has identified many mutations in the PINK1 gene that can cause PD. Scientists previously thought that only individuals with mutations in both copies of the PINK1 gene will develop PD. However, the new study demonstrated that a person with a specific mutation in only one copy of PINK1 is still at risk of developing the disease at an earlier age. Another gene called PARKIN is mutated in PD. Normally, PINK1 and PARKIN work together in the same pathway to govern mitochondrial quality control. The PINK1-PARKIN pathway plays a key role in maintaining the health of mitochondria in neurons. Previous evidence has shown that mitochondrial damage is implicated in PD. In this work, Springer's team found that a specific mutation in one copy of PINK1 can suppress the protein produced by the copy of the normal PINK1 gene, which disrupts the PINK1-PARKIN pathway. As a result, this pathway is unable to ensure the health of mitochondria. CusAb offers rabbit polyclonal antibody for researchers. The findings, reported in the Brain journal, demonstrated the harmful effect of the specific mutation. Moreover, it would have implications in many other diseases.
