PRKN/PINK1 Erken başlangıçlı Parkinson hastalığı olan Çinli bir hastada mutasyonlar.

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BackgroundPRKN and PINK1 gene mutations have been associated with Parkinson's disease (PD), particularly early-onset PD (EOPD).ObjectivesTo describe the clinical and molecular features of a Chinese patient with EOPD who had uncommon PRKN and PINK1 mutations.MethodsThe patient's clinical history was reviewed, and whole-exome sequencing was performed to identify genetic mutations. An in vitro mitochondrial stress model was created to study the impact of PRKN deletion on the PINK1-PRKN pathway.ResultsThe patient exhibited a 27-year history of tremors and other motor symptoms, with a notable response to levodopa and subthalamic nucleus deep brain stimulation (STN DBS). Genetic testing revealed an unusual double mutation of PRKN/PINK1, while PRKN deletion blocked the activation of the PINK1-PRKN pathway, disrupting the patient's mitophagy pathway.ConclusionsPRKN/PINK1 mutations may be linked to compromised mitophagy pathways. Genetic screening is significant for EOPD patients, especially those with specific symptoms and ethnic backgrounds.

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