Prader-Willi Syndrome
2004年8月18日I thought I’ll talk about my Genetics module research topic today. The reason I’m typing in English today is because I did the project in English and so I dun really know how to explain in Jap...
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Prader-Willi syndrome (PWS) is an interesting genetic disorder， it occurs 1 in 1500-2500 births.
Clinical features
Infant will display hypotonia(severe muscular weakness)， failure to thrive， feeding problems and developmental delays. At around 2 years of age， a great change is observed， especially in their eating behaviour. They begin to have a compulsive behaviour patterns， aggressive behaviour， self-mutilation， psychoses (30％) and their obsessive eating behaviour. It appears that PWS patients get no satiety， so they eat and eat and eat， leading to clinical obesity， with BMI of over 35 in most of the cases.
Genetic Aspects
Some genes on the human genome are inactivated (by methylation) depending on whether the gene comes from the father or the mother.
Certain genes on paternal chromosomes are activated while the same gene on the maternal chromosome is silenced， and vice versa. This silencing of the gene is called ‘imprinting’.
The gene involved in PWS is located on the proximal long arm of chromosome 15， 15q11.2q13 region. It is an imprinted gene， where the maternal gene is silenced and the paternal gene is the only one active. However， in PWS patients， the paternal gene is lacking in expression. Meaning that in that area， there are no gene available (because maternal gene is silenced anyway) to be expressed. The absence of expression can be due to deletion， maternal disomy， or translocation.
I found it really interesting how just one gene... it only takes one fault in a gene to cause such a horrible disease. I guess it applies to other diseases like sickle cell anaemia， cystic fibrosis， huntington’s... etc. etc and the list goes on....
It was a very interesting disease topic... but kinda stupid how this doesn’t really get marked on it. The med department is only looking at how well we can research on a topic using PubMed and MedLine and stuff... *sigh* Although it was interesting， it was kinda waste of my study time...
Unfortunately， there are no cure available for PWS... not even gene therapy is being developed， because the function of the gene is unknown. Hope they find out sometime soon...
I got my presentation on PWS today... Hope it goes well， cuz I haven’t even thought about wat I’m going to say. Uh oh
Oh well， it’s not that important anyway...
++++++++*++++++++*++++++++
Prader-Willi syndrome (PWS) is an interesting genetic disorder， it occurs 1 in 1500-2500 births.
Clinical features
Infant will display hypotonia(severe muscular weakness)， failure to thrive， feeding problems and developmental delays. At around 2 years of age， a great change is observed， especially in their eating behaviour. They begin to have a compulsive behaviour patterns， aggressive behaviour， self-mutilation， psychoses (30％) and their obsessive eating behaviour. It appears that PWS patients get no satiety， so they eat and eat and eat， leading to clinical obesity， with BMI of over 35 in most of the cases.
Genetic Aspects
Some genes on the human genome are inactivated (by methylation) depending on whether the gene comes from the father or the mother.
Certain genes on paternal chromosomes are activated while the same gene on the maternal chromosome is silenced， and vice versa. This silencing of the gene is called ‘imprinting’.
The gene involved in PWS is located on the proximal long arm of chromosome 15， 15q11.2q13 region. It is an imprinted gene， where the maternal gene is silenced and the paternal gene is the only one active. However， in PWS patients， the paternal gene is lacking in expression. Meaning that in that area， there are no gene available (because maternal gene is silenced anyway) to be expressed. The absence of expression can be due to deletion， maternal disomy， or translocation.
I found it really interesting how just one gene... it only takes one fault in a gene to cause such a horrible disease. I guess it applies to other diseases like sickle cell anaemia， cystic fibrosis， huntington’s... etc. etc and the list goes on....
It was a very interesting disease topic... but kinda stupid how this doesn’t really get marked on it. The med department is only looking at how well we can research on a topic using PubMed and MedLine and stuff... *sigh* Although it was interesting， it was kinda waste of my study time...
Unfortunately， there are no cure available for PWS... not even gene therapy is being developed， because the function of the gene is unknown. Hope they find out sometime soon...
I got my presentation on PWS today... Hope it goes well， cuz I haven’t even thought about wat I’m going to say. Uh oh
Oh well， it’s not that important anyway...
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