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PINK1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PINK1 gene

The PINK1 gene provides instructions for a protein that protects mitochondria from stress, and mutations in this gene are associated with early-onset Parkinson's disease.

Normal Function

The PINK1 gene provides instructions for making a protein called PTEN induced putative kinase 1. This protein is found in cells throughout the body, with highest levels in the heart, muscles, and testes. Within cells, the protein is located in the mitochondria, the energy-producing centers that provide power for cellular activities. The function of PTEN induced putative kinase 1 is not fully understood, but it appears to help protect mitochondria from malfunctioning during periods of cellular stress, such as unusually high energy demands.

Researchers believe that two specialized regions of PTEN induced putative kinase 1 are essential for the protein to function properly:

  • Mitochondrial-targeting motif: Serves as a delivery address to ensure the protein is delivered to the mitochondria.
  • Kinase domain: Likely carries out the protein's protective function.

Health Conditions Related to Genetic Changes

Parkinson's disease

Researchers have identified more than 70 mutations in the PINK1 gene that can cause Parkinson's disease, a condition characterized by progressive problems with movement and balance. PINK1 gene mutations are associated with the early-onset form of the disorder, which typically begins before age 50.

Many PINK1 gene mutations alter or eliminate the kinase domain, leading to a loss of protein function. At least one mutation affects the mitochondrial-targeting motif and may disrupt delivery of the protein to mitochondria. With reduced or absent PTEN induced putative kinase 1 activity, mitochondria may malfunction, particularly when cells are stressed. Cells can die if energy is not provided for essential activities. It is unclear how PINK1 gene mutations cause the selective death of nerve cells that characterizes Parkinson's disease. The loss of these cells weakens communication between the brain and muscles, and ultimately the brain becomes unable to control muscle movement.

Other Names for This Gene

  • BRPK
  • PARK6
  • PINK1_HUMAN
  • PTEN induced putative kinase 1

Frequently Asked Questions

Research is ongoing in animal models and cell cultures to deliver functional PINK1 via viral vectors or to enhance mitophagy pharmacologically. No approved gene‑therapy trials exist yet, but clinical trials are being planned to test mitochondrial‑protective agents that may compensate for PINK1 loss.
The most reliable approach is sequencing the entire PINK1 coding region and intron‑exon boundaries, often as part of a hereditary Parkinson’s panel or whole‑exome sequencing. Copy‑number analysis may also detect large deletions. Results are interpreted by a clinical geneticist.
Standard Parkinson’s treatments—levodopa/carbidopa, dopamine agonists, and MAO‑B inhibitors—are used, but patients may benefit from early, structured exercise programs that improve balance and gait. Antioxidant supplements and mitochondrial‑supportive diets are sometimes tried, though evidence is limited. Regular monitoring for motor complications is essential.
PINK1 encodes a mitochondrial kinase that helps remove damaged mitochondria. When mutations impair its kinase domain or mitochondrial targeting, mitochondria accumulate dysfunction, leading to neuronal energy failure and death of dopaminergic cells in the substantia nigra, which manifests as Parkinsonian symptoms before age 50.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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