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Prader-Willi Syndrome
Most people have never heard of Prader-Willi Syndrome (PWS), as it
only affects approximately one out of every 10 000 - 20 000 people and
is believed to be under-diagnosed.
Prader-Willi syndrome is caused by an abnormality on chromosome 15
and it does not discriminate between sex or race. The first symptom is
usually an insatiable appetite that appears between the ages of two and
six. These children often feel constantly hungry, their metabolic rate
is lower than normal (so only 60% of the calories of a typical person
is required) and their muscle development is weak. The combination of
these problems increases the likelihood of secondary health risks later
in life, such as obesity, heart disease and diabetes. In addition to
struggling with being overweight, people with PWS are often of normal
to slightly-below-normal intelligence and short of stature. Many would
be able to live independently if only there were effective treatments
to curb their voracious appetite - known as ‘the hunger’. Presently, no
such treatment exists and current management of PWS involves living in
homes where access to food is strictly controlled (padlocks on fridges
and pantries) and there is strict supervision when outside the
home.
There is no current treatment for PWS. Current management
involves living in homes where access to food is strictly controlled
(padlocks on fridges and pantries) and there is strict supervision when
outside the home. Many would be able to live independently if only
there were effective treatments to curb their voracious appetite -
known as ‘the hunger’.
Garvan researchers are investigating whether the naturally
occurring hormones peptide YY (PYY) and pancreatic polypeptide (PP),
both of which are secreted from the gut, might be involved in the
development and possible treatment for increased appetite and obesity
in PWS. They are testing their hypothesis that people with PWS have
less circulating PYY or PP than those unaffected, and want to determine
whether changes in these satiety hormones are linked to changes in body
metabolism and composition. The team also plan to test a licensed
medicine that may help improve the management of PWS and prevent the
ensuing obesity with all its complications. And there’s another angle
to this research. If long-term deficiency of PYY or PP can contribute
to increased appetite or obesity, it might be possible to administer
additional PYY or PP (either individually or in combination) to reduce
appetite and control obesity in otherwise normal individuals. Finding
potential treatments for Prader-Willi Syndrome is being made possible
by private family donations. Garvan is extremely grateful to those who
are enabling us to tackle this challenging area of work
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