Neuronal key gene survival identified
The PINK1 gene is one of the genes responsible for cellular alert in case of mitochondria irregularities and plays an essential role in neuron survival.Bogotá D. C., 23 de agosto de 2016 — Agencia de Noticias UN-
Parkin and Pink1 are in charge of detecting damaged mitochondria. The origin of the mutation of these two genes is unknown.
The research project was carried out from silencing genes, in other words inhibiting its protein production in in vitro models.
As established by Universidad Nacional de Colombia (UNal) Biomedical Sciences PhD María José Contreras through an in vitro model using PINK1 and Parkin genes whose mutations may have a bearing on neurodegenerative diseases such as Parkinson’s disease.
The purpose of her research was related with what is called gene silencing as a way to better understand function dynamics and attack rare or unusual pathologies. In fact although a disease such a Parkinson’s is amply known, it is less frequent in early adulthood.
The role of these genes on mitochondrial activity is not new. When for any reason there are damages in mitochondria the Parkin and PINK1 are in charge of marking them and creating the necessary conditions to eliminate them. This process is known as mitofagia or mitochondrial autophagy.
The affected mitochondria, immersed in a sea of cytoplasm with thousands of other mitochondria can release proteins and substances which can lead to cell death. However, the cell is capable of specifically detecting damaged mitochondria and eliminating them to prevent cells from dying thanks to the Parkin and PINK1 genes.
Beyond this situation Contreras, on analyzing other cell processes established that the PINK1 gene regulates the activity of growth receptor systems, such as the Insulin-like growth factor 1 (IGF1) for the cell to survive. Therefore IGF1, with an external signal which comes from other cells, is one of the main cell growth factors.
In in vitro models when several cell functions were analyzed without the presence of the PINK1 gene, through gene silencing (inhibiting protein expression) they determined that all the signaling linked activation of the IGF1 receptor was compromised and cell did not survive. This would explain neuronal death which occurs in pathological processes in Parkinson’s disease.
”Alterations of mitochondria in this model in absence of PINK1 may be explained as a result of the observed defect on the growth receptor,” said Physician, M.Sc. in Human Genetics and PhD in Neurosciences Professor Gonzalo Arboleda and María José Contreras research tutor.
These findings produce new hypothesis not only with respect to the essential role of the PINK1 gene in neurodegeneration processes but also its potential role in other pathological processes where signaling through IGF1 receptors are vitally important, for instance in diabetes and cancer.(Por: Fin/HEVC/MLA/APBL