Found Genetic Mutation Causing Parkinson's Disease in Koreans with Family Heredity

Korean Brain Research Institute Team, Genome Analysis Results
Opportunity to Establish Diagnosis and Treatment Strategies

Parkinson's disease is a common degenerative brain disorder occurring in more than 1.2% of the population aged 60 and above. Domestic researchers have identified a Parkinson's disease-causing genetic variant unique to Koreans, which can be utilized for future diagnosis and treatment.

The Korean Brain Bank research team at the Korea Brain Research Institute, in collaboration with Professors Jeong Seon-su from the Department of Neurology and Sung Chang-ok from the Department of Pathology at Seoul Asan Medical Center, announced on the 6th that they discovered genetic variants associated with sporadic Parkinson's disease through whole-genome analysis of 410 Parkinson's disease patients and 200 age-matched control subjects.

Parkinson's disease. Stock photo. Not related to the article.

It is already well known that sporadic Parkinson's disease can be caused by somatic genetic mutations, but the research team identified novel Parkinson's disease-specific genetic variants that had not been previously reported. In particular, among the newly discovered Parkinson's disease risk factors, the GPR27 gene is highly expressed in the brain, and mutations in the GPR27 gene were found to be strongly associated with the expression of alpha-synuclein protein, a causative factor of Parkinson's disease, as well as with a decrease in dopamine signaling.

Parkinson's disease incidence is increasing worldwide due to rapid population aging. Besides symptom-relieving drugs that can be used in the early stages of diagnosis, there are no definitive treatments or fundamental cures yet. It is a representative degenerative brain disorder characterized by the continuous death of various neural cells in the brain's midbrain substantia nigra, including dopamine neurons. Along with motor symptoms, non-motor symptoms such as dementia, depression, anxiety, hallucinations, sleep disorders, and autonomic nervous system dysfunction occur variably among patients.

Because abnormal accumulation and intercellular propagation of the causative alpha-synuclein protein vary among patients, elucidating the causes of clinical symptom diversity is necessary for developing fundamental treatments for Parkinson's disease.

More than 95% of Korean Parkinson's disease patients have sporadic Parkinson’s disease, with a significantly lower proportion of familial Parkinson’s disease patients compared to Western populations. Although genetic variants associated with sporadic Parkinson’s disease have recently been reported, the missing heritability remains high at over 60%, making it essential to identify genomic factors related to sporadic Parkinson’s disease onset for developing fundamental treatments.

The research team stated, "Through whole-genome sequencing analysis of Korean sporadic Parkinson’s disease patients, we discovered novel genetic variants associated with Parkinson’s disease onset," adding, "This suggests the possibility of discovering new therapeutic targets and personalized treatment for Parkinson’s disease patients."

The results of this study were published in the latest issue of the international journal 'Experimental & Molecular Medicine.'

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