Thursday 4 September 2008

Prader-Willi Syndrome Gives Genetic Insight On Imprinting


Important findings related to the birthing defects Prader-Willi Syndrome
(PWS) and Angelman Syndromes, discussed in an article released on August 25, 2008
in PLoS Biology, may help explain imprinted genes
in humans.


In
humans, two copies of each gene are contributed to a tike: one from
the mother and one from the father. Imprinted genes are genes that
express otherwise (or stop expressing) depending on whether it is
inherited from the mother or father of the child. One of the copies is
prevented from working in one of these copies, leaving the other with
all expression, which lav raise issues if the expression factor is
damaged.


These genes have not been to the full explained, only
according to the kinship theory are influenced by allocation of
maternal and paternal resources, such as nourishment or affection. Much
investigation has been performed related to the maternal contribution
to such genes, just the paternal influence has been largely neglected.


One
example of such a factor leads to a syndrome, Prader-Willi Syndrome. PWS
children get difficulty suckling after birth and mostly have a low
body weight. Once weaned from breast milk, they gain large appetites,
and they become corpulent. The Prader-Willi Syndrome Association of the
United States cites that the syndrome is found in one out of every 12
to 15 g children. While rare, it is considered the to the highest degree common
genetic cause of obesity, and is related to a damaged copy of the gene
coming from the father.


Prof. Francisco Ubeda of the
University of Tennessee, Knoxville, investigated the relationship
between this gene's expression and the amount of care tending to the
child by his sire. He as observed that PWS children experience
changes that mean near reversal of the syndrome when they obtain
significant maternal resources. Ubeda found that, as the contribution
of resources from the begetter increased, the PWS copy that is expressed
shifts. This shows that the paternal resources can have a significant
impact on imprinted genes. This relates to the typical pattern of early
human development. "Before
weaning, the mother has the monopoly on providing resources directly to
her offspring," Ubeda says."After weaning, the father directly provides
a
greater share of resources to his offspring."


Ubedo points out
that this finding testament likely not affect PWS treatment in the near
future, but it has many implications for a greater agreement of
imprinted genes. "I
don't have whatever sense that this will somehow tether to a cure for PWS, simply
it does present a new country for those interested in the disease to study
and hopefully a young understanding of how the disease functions." He
claims that the larger effects of this work may be situated in the
discovery that even a small contribution from the father early in
development tin affect expression of these genes. This new finding
answers many of the questions caused by this and similar conditions
that do non seem to be totally dictated by the mother's influence.

Evolution of genomic imprinting with biparental care:
Implications for Prader-Willi and Angelman syndromes.


Ubeda F
PLoS Biol 6(8): e208.

doi:10.1371/journal.pbio.s0060208
Click
Here For Full Length Article


Written by Anna Sophia McKenney


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