▲ Research results have shown that mutations in several genes involved in the survival of nerve cells can cause Parkinson’s disease. (Photo = DB)
[메디컬투데이=이승재 기자] Research has shown that mutations in several genes involved in the survival of nerve cells can cause Parkinson’s disease.
The results of a sister study revealing a genetic predisposition related to the development of Parkinson’s disease were published in Neuron.
Parkinson’s disease is the second most common neurodegenerative disease after Alzheimer’s disease. There are more than 1 million Parkinson’s disease patients in the United States alone and more than 10 million worldwide. Parkinson’s disease is more common in men than women, and the risk of developing it increases with age.
The exact cause of Parkinson’s disease is not known, but 10% to 15% of Parkinson’s disease patients have a genetic predisposition, and environmental factors such as some chemicals and head trauma are also involved. At the cellular level, Parkinson’s disease occurs when the amount of dopamine, a substance that mediates signal transmission between brain cells, decreases. It is known that this decrease in dopamine concentration occurs because a large number of dopamine neurons die in an area called the substantia nigra of the midbrain. The main symptoms of Parkinson’s disease include slowed movement, tremors, stiffness, sleep disorders, and mood disorders.
The researchers studied the genetic predisposition involved in the development of Parkinson’s disease by analyzing the genetic information of a sister who developed Parkinson’s disease at an early age. One of the sisters developed Parkinson’s disease at age 16, and the other at age 49. Analysis of genetic information revealed that both sisters had mutations in the ‘PINK1’ gene, a gene that protects nerve cells.
A woman who developed Parkinson’s disease at the age of 16 also had a mutation in a gene called ‘parkin’. Parkin is a gene involved in endoplasmic reticulum recycling, and if there is a mutation in the Parkin gene, dopamine is not recycled properly and remains oxidized. Oxidized dopamine is toxic and, if accumulated in large amounts, can cause loss of nerve cells.
The researchers explained that the level of oxidized dopamine was very high in a woman who developed Parkinson’s disease at the age of 16, and that a mutation in the Parkin gene may have been involved in this. She also added that having mutations in both the PINK1 and Parkin genes also inhibits the process by which mitochondria, which produce energy within cells, are recycled at the synapse.
From these results, the researchers concluded that several genes involved in the survival of nerve cells are involved in the development of Parkinson’s disease.
Medical Today Reporter Seungjae Lee ([email protected])
[저작권자ⓒ 메디컬투데이. 무단전재-재배포 금지]
2023-09-29 04:33:18
#genes #involved #nerve #cell #survival #influence #development #Parkinsons #disease
