Results from the study of patient brain tissue… “Possibility of suggesting new treatment targets”
The Korea Institute of Science and Technology (KIST) announced on the 28th that a research team led by Seong Ji-hye and Ryu Hoon of the Brain Science Research Institute has revealed the pathological mechanism that causes brain dysfunction in patients with Huntington’s disease.
According to KIST, Huntington’s disease is a hereditary brain disease caused by a mutation in the huntingtin gene, and usually occurs around the age of 40.
It is a degenerative brain disease that causes uncontrolled convulsive body movements, personality changes, symptoms of dementia, and death. There is no cure yet.
The KIST research team found that FAK (focal adhesion kianse) protein activity was significantly reduced in the brain tissue of Huntington’s patients and in Huntington’s animal and cell models.
The FAK protein plays an important role in brain function, essential for neurite motility and the formation of normal synapses (signal transduction junctions between neurons).
In order for this protein to be normally activated, one of the phospholipids present in the cell membrane, phosphatidylinositol 4,5-biphosphate (PIP2), is required.
When the research team observed live Huntington’s disease cells using a fluorescent molecular sensor and real-time fluorescence imaging, the mutant huntingtin protein was abnormally strongly bound to PIP2.
As a result, the research team explained that PIP2 was found to be abnormally distributed in the cell membrane, inhibiting FAK protein activation, disrupting normal synaptic function, and causing early brain dysfunction.
“By discovering the pathological mechanism in the brain tissue of Huntington’s disease patients, we are able to present a new therapeutic target for degenerative brain diseases in humans,” the research team said.
This research was carried out by the Ministry of Science and ICT, KIST’s major projects, the National Research Foundation of Korea’s mid-level researcher support project, and the Samsung Future Technology Promotion Project.
The research results were published in the latest issue of the international scientific journal ‘Acta Neuropathologica’.
/yunhap news