Showing posts with label SNCA. Show all posts
Showing posts with label SNCA. Show all posts

Thursday, November 23, 2023

Inheritance of Parkinson's Disease

                   Two puzzle pieces joined together representing parkinson's and genetics

Parkinson's disease is a progressive disorder that affects the nervous system and the parts of the body controlled by the nerves. There are 28 chromosomal regions related to Parkinson’s and six contain genes with mutations conclusively. About 15% of people with the disease have a family history of the condition with a mutation link along the family lineage. SNCA, PARK2, PARK7, PINK1, AND LRRK2 are the genes that the inheritance patterns depend on. If LRRK2 and SNCA are involved, then the inheritance is autosomal dominant; if the other 3 genes are involved, it is autosomal recessive. Both parents passed on the altered gene but may not have even presented with any signs of having Parkinson's disease themselves.


Sources

https://www.hopkinsmedicine.org/health/conditions-and-diseases/parkinsons-disease/the-genetic-link-to-parkinsons-disease

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3253033/

https://medlineplus.gov/genetics/condition/parkinsons-disease/#inheritance


Friday, August 6, 2021

The Cause of Parkinson's Disease

 THE CAUSE OF PARKINSON'S DISEASE

    Parkinson's disease is a brain disease that occurs when aging, and causes mental and behavioral complications. The individual who suffer from this condition tends to be unbalance, incoordination, and has difficulty memorizing. The major cause of Parkinson's disease is when the nerve cell in the brain dies or starts to lack. As a result the loss of norepinephrine occurs. 

    In Parkinson's disease, some of the genes that are linked to this disease are SNCA, PARK2, PARK7, and PINK1. This such any important condition because it can affects both females and males. Unfortunately, there is no medical examination for detecting this condition. 


1. Parkinson's Disease | National Institute on Aging (nih.gov)

2. The Genetic Link to Parkinson's Disease | Johns Hopkins Medicine

Saturday, April 6, 2019

The Genetics of Alcohol Use Disorder

Past research on Alcohol use disorder (AUD), the medical term for alcoholism has linked the addiction to hereditary and environmental factors. Having parents who abuse alcohol or being exposed to social factors do increase one's chances to struggle with the addiction, but ultimately the determining factor for the vulnerability to the addiction is genetic predisposition. A study investigates the genetic risk prediction and neurobiological understanding of alcoholism, provides results indicating a network of genes related to the susceptibility to the addiction. According to the study's results, genes increasing alcohol dependence vulnerability such as, SNCA involved in modulating brain plasticity and neurotransmission, CFG involved in neuron-astrocyte interaction, GRM3 involved in neurotransmitter signaling, and others are decreased in expression prior to alcoholism.




Alcoholism is a serious disease affecting many people, and their families. Understanding the genetic mechanism of our bodies making some more susceptible to the addiction gives us clearer view to the actual cause of the disease. Being genetically predisposed does not mean that one will become dependent, since the disease can not be initiated without the external component (alcohol),but makes us understand  why while a lot of people drink some become more easily dependent  than others? According to a  publication from the American Addiction Center genetics are 50 percent of the underlying reason for AUD. Those people when consuming alcohol experience more  pleasurable emotions.










Wednesday, April 1, 2015

Music Performance Effect On Transcriptome



Music performance involves a lot of cognitive and motor skills which have an unknown biological basis. Neuroscientific studies have showed that the brains of professional musicians differed structurally and functionally from non-musicians. In this study the effect of music performance on the genome-wide peripheral blood transcriptome of professional musicians was analyzed both after a two hour concert and a music free control session.

After the two hour concert up-regulated genes affected dopaminergic neurotransmission, motor behavior, neuronal plasticity, and neurocognative functions including memory and learning. Certain candidate genes like SNCA, FOS and DUSP1 which are involved in song perception and production in songbirds were identified suggesting an evolutionary conservation in biological processes related to sound perception and production. Also, genes were modulated that related to calcium ion homeostasis, iron ion homeostasis, glutathione metabolism, and several neuropsychiatric and neurodegernative diseases that implied that music performance may affect the biological pathways that are essential for the proper maintenance of neuronal function and survival. This was the first study to show evidence for candidate genes and molecular mechanisms underlying music performance. "The findings provide a valuable background for molecular studies of music perception and evolution, and music therapy", says the leader of the study, Dr. Irma Järvelä from the University of Helsinki.

I found this article very interesting due to association between music performance and the up-regulated genes that affected neurocognative and motor functions. In particular this interested me since I play the cello for musical concerts on an almost regular basis but never knew that this ability might be due to evolutionary genes like SNCA, FOS and DUSP1 for sound perception and production in song birds. Furthermore, I learned about the process of transcriptome analysis in the blood and how it can be used to determine when and where a gene is turned on or off in an organism.


Original Article: http://www.medicalnewstoday.com/releases/291666.php
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/25806429