PTEN2

PTEN2 is a gene that encodes a protein belonging to the tensin family. The tensin family are adaptor proteins that play roles in cell adhesion, migration, and the regulation of the actin cytoskeleton. PTEN2, also known as PTEN-induced putative kinase 1 (PINK1), is a serine/threonine kinase. While initially identified as potentially related to PTEN (a tumor suppressor gene), subsequent research revealed its distinct function.

PINK1 is primarily known for its critical role in mitochondrial quality control. When mitochondria are damaged, PINK1 accumulates on their outer membrane. This accumulation then recruits other proteins, most notably Parkin, a ubiquitin ligase. Together, PINK1 and Parkin initiate a process called mitophagy, which is the selective degradation of damaged mitochondria. This process is essential for maintaining cellular health and preventing the accumulation of dysfunctional organelles that can lead to cellular stress and disease.

Mutations in the PTEN2 (PINK1) gene are strongly associated with early-onset familial Parkinson's disease. These mutations disrupt the protein's ability to localize to damaged mitochondria and trigger mitophagy, leading to the build-up of damaged mitochondria in neurons. This neuronal dysfunction is a hallmark of Parkinson's disease. Beyond its role in Parkinson's, PTEN2 is also implicated in other cellular processes, including apoptosis and inflammatory responses, though its precise functions in these contexts are still under investigation.