Genetic Screening for the Prevalence of PRNP Mutations in Pakistan /
Minahil Khalid
- 83p. Soft Copy 30cm
Prion diseases are highly contagious, rapidly progressive, and extremely life-threatening neuronal condition. CJD is the prime example of prion disease. Many cases of CJD have been reported up till now. It can be acquired, inherited or sporadic in nature. sCJD accounts for the highest prevalence globally i.e., 85% of the cases, gCJD encompasses 10-15% of the cases whereas iCJD cases include 1-2%. Its long incubation period (10-12 years) and short disease duration (3-12 months) makes it difficult to diagnose, which has contributed to higher death toll since its occurrence. World organizations are strictly monitoring CJD cases, in order to curtail the spread of this fatal disease but they are far behind in eradicating it completely. Hence it is imperative to identify CJD sources to reduce the number of cases. Therefore, this present research is the first initiative to assess the prevalence of CJD in Pakistani population. Results of this study indicated absence of mutation at codon 200 in the participants under study. Most prevalent genotype were M129-E200 (71%) and V129-E200 (29%) whereas M129-K200 and V129-K200 were absent in the participants. In parallel study a survey encompassing questions related to cognitive impaired just like CJD was also carried out to assess public knowledge regarding it. Results indicated that educated groups lacked knowledge in theoretical as well as non-theoretical aspects of CJD. This study is highly significant as it provides preliminary data on the susceptible cases of CJD and proof that the public knowledge also corresponds to the data gathered by genetic screening