Conclusion of Prader Willi Syndrome

By | May 20, 2012


PWS is a complex disorder with variable phenotypic changes according to the age of the patient. There are numbers of Associations and Support groups are working together to give a better management to the PWS individuals e.g. Prader Willi Syndrome Association (UK) and PWSA (USA) etc. Researches are still in progress in all concerned parts of medical sciences throughout the world. According to Stankiewicz and Lupski (2002)

UBE3A gene has been recognized as a deletion in case of Angelman Syndrome, for PWS it is still a question mark. There are a lot of work has been done on SNURF-SNRPN gene which indicates involvement in most of the cases of PWS. In a very recent microarray analysis Bittel et al. (2003) analyzed 73 transcripts from the 15q11-q13 region in lymphoblastoid cell lines and observed different biallelic expression considering individuals with PWS caused by either deletion or UPD in comparison of controls.

Hopefully, with the help of more elaborated ideas on imprinting, UPD, deletion and further studies of human genetics, and advances in its technologies, could give a better understanding on the particular disease.

 Considerable steps have been taken in past 20 years to understand the symptoms, to understand the recurrence, to understand the mutation and its inheritance, and to enable PWS individuals healthy and happy, but still a very handful information has been gathered and much more has to be done.