Orphan PD Drug for Familial Parkinson’s Disease
A targeted approach to restore mitochondrial function in inherited early-onset PD
Understanding the Genetic Cause of Familial PD
PINK1 mutations are a well-established cause of autosomal recessive early-onset PD. PINK1 mutations account for about 1–9% of early onset PD worldwide and are considered an orphan disease. These pathogenic mutations highlight the critical role of PINK1 and mitochondrial quality control in maintaining neuronal health.
Understanding the Genetic Cause of Familial PD
More than 70 pathogenic PINK1 mutations have been identified. Among these, several missense mutations lead to reduction or inactivation of the PINK1 kinase activity.
- L347P
- G309D
A New Avenue for Personalized Treatment
Progenra’s PINK1 activator compounds rescue activity of several pathogenic PINK1 mutants. These molecules open a new avenue for personalized medicine for familial PD patients.
