Jornal Internacional de Neurorreabilitação

"Analysis of the Associated Mutations of DJ-1 Gene to Parkinson’s Patients in Vietnam"

Abstract

Nguyen Minh Duc, Nguyen Duc Hieu, Ho Truong Giang, Le Vo Hoang Long, Nghiem Ngoc Minh, Vo Thi Bich Thuy

The exact causes of Parkinson's disease (PD) are currently unknown, but studies have shown that the environment and genetics are the two factors that play the biggest role in Parkinson's disease. DJ-1 gene (belong to the PARK genes) is known as the main cause of Parkinson's disease in populations. In Vietnam, the evaluation of DJ-1 gene mutation frequency in patients is necessary to clarify the pathogenesis and genetic mechanisms of this disease. In this research, we identified the frequency mutations of the DJ-1 gene in Vietnamese PD patients. The results showed that we detected some DJ-1 mutations at exon 5 and exon 7. Interestingly, Ala86Gly and Gln95Leu mutations of exon 5 and His138Pro of exon 7 are found, which leads to a change in amino acid sequence and possibly a change in a functional protein. In addition, out of more than 20 heterozygous or homozygous mutations occurring in the intron regions 4 and 5, we found that 3 homozygous mutations occurred frequently in both patient and control. The data of mutation analysis has shown the ambiguous and unforeseeable meanings; however, they possibly associated with the mutation of PD. Therefore, the study of our next will focus on the relationship between these mutations with some clinical symptoms in patients.