what are the reasons for gaucher's disease?
Answer / 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.
Is This Answer Correct ? | 1 Yes | 0 No |
What are the main theoretical models that try to explain the formation of the enzyme-substrate complex?
which is known as antidermatitis factor?
The reduction-oxidation (Redox) potentials of NADH and FADH2 show that the following reaction is spontaneous: a) FADH2 + NAD+ --> FAD + NADH b) FADH2 + NADP+ --> FAD + NADPH c) NADH + FAD --> NAD+ + FADH2 d) Reactions a) and b) are both spontaneous
What does hess law states?
What is the formula of hypo in oxidation state of sulphur?
Do all proteins have quaternary structure?
What is nucleophilic addition reaction?
How many sigma and pi bonds are present in nitrogen formula?
Compare endonuclease and exonuclease?
According to the watson – crick model how many polynucleotide chains does a dna molecule has?
Does rna molecule have two polynucleotide chains likewise dna?
What is lattice energy?