Parkinson’s Disease: Genetic Mutations Found to Play a Crucial Role
New research has revealed a significant breakthrough in understanding the development of Parkinson’s disease. It has been discovered that mutations in specific genes responsible for nerve cell survival can contribute to the onset of this debilitating condition. These findings, published in Neuron, shed light on the genetic predisposition behind Parkinson’s disease.
Parkinson’s disease is the second most prevalent neurodegenerative disorder, trailing only Alzheimer’s disease. With over 1 million patients in the United States and more than 10 million worldwide, it is a growing public health concern. The disease predominantly affects men and its incidence increases with age.
While the exact cause of Parkinson’s disease remains unknown, studies have shown that approximately 10% to 15% of patients have a genetic predisposition. Environmental factors, such as exposure to certain chemicals and head trauma, also play a role. At the cellular level, Parkinson’s disease is characterized by a decrease in dopamine, a neurotransmitter that facilitates communication between brain cells. This decrease occurs due to the death of dopamine neurons in the substantia nigra region of the midbrain. Common symptoms of Parkinson’s disease include slow movement, tremors, stiffness, sleep disturbances, and mood disorders.
To investigate the genetic factors contributing to Parkinson’s disease, scientists analyzed the genome of two sisters who developed the condition at different ages. It was discovered that both sisters harbored mutations in a gene known as PINK1, which is responsible for protecting nerve cells. Furthermore, the younger sister, who developed Parkinson’s at the age of 16, also possessed a mutation in the parkin gene. The parkin gene’s role in recycling endoplasmic reticulum ensures proper dopamine recycling. When a mutation occurs in this gene, dopamine is not recycled correctly and becomes oxidized. Accumulation of oxidized dopamine can lead to the loss of nerve cells.
The researchers found significantly elevated levels of oxidized dopamine in the younger sister and correlated it with the mutation in the parkin gene. Additionally, mutations in both the PINK1 and parkin genes disrupt the recycling of mitochondria in the synapse, impairing energy production within cells.
Based on these findings, it can be concluded that multiple genes involved in nerve cell survival contribute to the development of Parkinson’s disease.
This breakthrough paves the way for further understanding of the mechanisms behind Parkinson’s disease. Identifying genetic mutations associated with the condition provides invaluable insight for the development of targeted therapies and personalized treatment options. With continued research, we can hope for improved quality of life for the millions affected by this challenging neurodegenerative disorder.
▲ Research results have shown that mutations in several genes involved in nerve cell survival can cause Parkinson’s disease. (Photo = DB)
[메디컬투데이=이승재 기자] Research has shown that mutations in several genes involved in nerve cell survival 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 unknown, but 10% to 15% of Parkinson’s disease patients have a genetic predisposition, and environmental factors such as certain 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 known as the substantia nigra of the midbrain. The main symptoms of Parkinson’s disease include slow movement, tremors, stiffness, sleep disorders, and mood disorders.
The researchers studied the genetic predisposition associated with the development of Parkinson’s disease by analyzing the genetic information of a sister who developed Parkinson’s disease at a young age. One of the sisters developed Parkinson’s disease at the age of 16, and the other at the age of 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 continues to be oxidized. Oxidized dopamine is toxic and, if accumulated in large amounts, can cause nerve cell loss.
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 could have been part of this. In addition, mutations in the PINK1 and Parkin genes also prevent the process where mitochondria, which produce energy within cells, are recycled in 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 (firstname.lastname@example.org)
[저작권자ⓒ 메디컬투데이. 무단전재-재배포 금지]
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