bio presentation Flashcards
What is the location of the ALDH2 gene?
Chromosome 12
on the q arm (long one)
region 24
band 12
How many base pairs long is ALDH2?
50600
How many exons and introns does ALDH2 have?
13 exons and 12 introns
How many base pairs is the mRNA?
9561 base pairs
How long is the amino acid?
517 amino acids
What does ALDH2 do?
main enzyme that breaks down acetaldehyde into acetate which is less toxic
What does this enzyme cause?
causes humans to be highly sensitive to alcohol from the inability to metabolize alcohol
Explain the global distribution of the enzyme?
it largely affects east asians because they commonly have a less active form of the enzyme
the acetaldehyde accumulation causes asian flush to occur
about 40-50% of east asians experience the asian flush
it is less common in european and african descent
What are associated with alcoholism linkage (names)?
GABRA2, ADHB1, DRD2
What does GABRA 2 do?
-GABA is the major inhibitory neurotransmitter in the brain
-alterations in signaling have been linked to the development of addictive behaviors, including alcohol dependence.
-GABRA2 regulates the effects of alcohol on the brain by modulating neurotransmission
-Variations in the GABRA2 gene may influence an individual’s susceptibility to alcohol dependence.
What does ADH1B do?
-ADHB1 encodes an alcohol dehydrogenase enzyme responsible for metabolizing ethanol (alcohol) into acetaldehyde
-Genetic variations in ADH1B can affect the speed at which alcohol is metabolized.
-Certain variants of ADH1B result in a more efficient metabolism of alcohol to acetaldehyde, potentially leading to the rapid accumulation of acetaldehyde
-This rapid buildup can cause unpleasant reactions, such as facial flushing and nausea, creating a deterrent to heavy alcohol consumption.
What does DRD2 do?
-DRD2 has involvement in neurobiological pathways, particularly those related to the dopamine system. -variations in the DRD2 gene may influence an individual’s response to alcohol and susceptibility to addiction.
-DRD2 has been implicated in reward processing and reinforcement, and alterations in this gene may contribute to the reinforcing effects of alcohol, potentially increasing the risk of dependence
What are the challenges of studying alcoholism linkage?
genetic, environmental factors, and its polygenic nature make it hard to study alcoholism linkage because it is hard to isolate exactly what it is caused by from other outside factors
- its also hard to study over a large-scale with diverse cohorts
Conclusion
-ALDH2 is a crucial enzyme in alcohol metabolism and significantly influences how the body processes ethanol
-ALDH2*2, has substantial implications for alcohol sensitivity and dependence risk.
-There is currently ongoing research about the interactions of ALDH2 with other genetic and environmental factors which can provide avenues for deeper insights and potential therapeutic targets
-It is important to have education and awareness to address its impact on individual and public health
