expression and its relationship with obesity in blood cells from people with and
without Prader-Willi syndrome.
Section of Medical and Molecular Genetics, University of Birmingham, Birmingham,
Summary by Jamie H. Bassel, D.C., P.C.
has been well established that PWS has been attributed to a partial deletion of
the gene 15q11q13. However, very little has been studied about the cause of the
deletion. This recent study demonstrates that there has been an irregularity of
CD36 expression in individuals displaying maternal uniparental disomy 15.
CD36 is expressed on many cell types, including some blood cells. Its
critical role in fatty acid metabolism has recently been proven.
Using specific techniques, the research has
demonstrated a reduction in CD36 expression on blood cells appears to be
consistent with maternal UPD. In non-PWS individuals body mass index (BMI) and
CD36 expression are inversely proportioned. However, CD36 expression in PWS
individuals this correlation does not exist. CD36 expression and its
circulating blood levels are directly linked to controlling a balance between
fat and blood sugar metabolism. This study further describes the possible
explanation of the voracious appetites in PWS patients.