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Answer Posted / swapna
Gaucher disease is a glycolytic storage disease caused by a
deficiency in activity of the catabolic enzyme
glucocerebrosidase. Over 35 different mutations have been
documented, including missense and nonsense point
mutations, splicing mutations, deletions and insertions, a
fusion gene, and examples of gene conversion. Gaucher
disease is most common in the Ashkenazi Jewish population,
in which just five of the mutations in this population
account for 98% of the disease-producing alleles. Each of
these mutations is found in the context of a single
haplotype, a finding consistent with a single origin of
each mutation. Although it is clear that these mutations
provide a selective advantage in the Jewish population and
thus constitute a balanced polymorphism, the nature of the
advantage is unknown. Gaucher disease can be treated
symptomatically, by administration of the missing enzyme,
by allogeneic bone marrow transplantation, and potentially
by gene transfer into hematopoietic stem cells. Increasing
understanding of this disease has, as in other genetic
disorders, created a host of social and ethical dilemmas
regarding matters such as the cost of treatment for rare
diseases and the advantages and disadvantages of population-
targeted genetic screening.
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