How does Angelman's syndrome trigger laughter?

  • Thread starter Thread starter Pyrus
  • Start date Start date
Click For Summary
SUMMARY

Angelman syndrome is caused by a microdeletion of the maternal chromosome 15, specifically affecting the UBE3A gene due to genomic imprinting. This genetic alteration leads to the expression of laughter in individuals with the syndrome, as the loss of UBE3A results in various physical, behavioral, and cognitive deficits. The laughter observed in Angelman patients is not a random occurrence but is linked to the specific genetic deletions affecting gene expression related to laughter under certain conditions. Overall, Angelman syndrome is a neurodevelopmental disorder characterized by a range of symptoms beyond laughter.

PREREQUISITES
  • Understanding of genetic concepts, specifically genomic imprinting
  • Knowledge of chromosome structure and function, particularly chromosome 15
  • Familiarity with the UBE3A gene and its role in neurodevelopment
  • Basic comprehension of neurodevelopmental disorders and their characteristics
NEXT STEPS
  • Research the role of UBE3A in neurodevelopmental disorders
  • Explore the implications of genomic imprinting in genetic diseases
  • Investigate the physical and behavioral characteristics associated with Angelman syndrome
  • Learn about genetic testing methods for diagnosing Angelman syndrome
USEFUL FOR

This discussion is beneficial for geneticists, neurologists, researchers in neurodevelopmental disorders, and families affected by Angelman syndrome seeking to understand the genetic basis of the condition.

Pyrus
Messages
20
Reaction score
4
We all know that do to microdeletion of maternal chromosome 15, Angelman syndrome occurs. But what is the reason that people with this syndrome trigger sudden laughter for long time.
This means that there is genetic relation between laughter and genes on 15th chromosome.
 
Biology news on Phys.org
Deletion are removals of DNA or damage to part of the DNA of the gene. So consider that the deletions remove genes whose expression involves laughing under defined conditions, rather than any old time.
Sort of backwards from your perception.

Cause: The "loss" of gene UBE3A is responsible largely because of genomic imprinting - expression of ONLY the mother's UBE3A. If it has problems then the child has no UBE3A expression in some brain tissue. The male parent's UBE3A is not activated. And Angleman's patients display all kinds of physical and behavioral abnormalities, and cognitive deficits. Not just laughter. The Angleman person's brain is "defective" to a larger or smaller degree.

https://rarediseases.info.nih.gov/diseases/5810/angelman-syndrome

Note: There are dozens follow-on links to relevant pages from there
 
Last edited:
  • Like
Likes   Reactions: BillTre, Pyrus and Fervent Freyja
What? No, correlation is not causation. I haven't read where laughter is related to any particular gene. That is a characteristic of this genetic syndrome, when combined it all indicates that it causes a neurodevelopmental disorder, which involves a host of characteristics. My baby brother has a mutation on chromosome 5, that does not mean a gene for the numerous characteristics specific to his syndrome or that he shares with other genetic syndromes can be found there, just the mutation.
 

Similar threads

  • · Replies 3 ·
Replies
3
Views
3K
  • · Replies 3 ·
Replies
3
Views
864
  • · Replies 5 ·
Replies
5
Views
3K
  • · Replies 7 ·
Replies
7
Views
4K
  • · Replies 2 ·
Replies
2
Views
2K
Replies
20
Views
3K
  • · Replies 7 ·
Replies
7
Views
5K
Replies
6
Views
3K
Replies
6
Views
2K
  • · Replies 47 ·
2
Replies
47
Views
10K