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:Pemphigus

Vulgaris

Autoimmune disease concerned with antibodies directed on desmoglien1 and


.desmoglien3 (Cadherin cell adhesion molecules superfamily)
The pathogenesis of the disease involves autoantibodies
againstdesmosome proteins, separating keratinocytes from the basal layer of the
epidermis
Pemphigus foliaceus
:Q.4

A) HbA1c a.k.a Glycosylated Haemoglobin is type of


Haemoglobin that is used to measure plasma glucose
concentration for long periods. In diabetes, high amount of
HbA1c indicates poor control over blood glucose levels,
thus, by using it, we can control the intake of glucose in diet
.without the risk of further complications
B) Glycosylation of protein is a frequent event in the body;
but in this case of haemoglobin glycosylation, nonenzyme
reactions occur between Glucose and Amino terminal valine
of alpha chain. This then is converted to 1-deoxyfructose
attached to valine
:Q.5

In Spherocytosis, non-immune haemolytic anemia, the red


cell morphology is involved where the RBC have a spherical
shape rather than biconcave and premature breakdown of
RBC. It's an autosomal dominant disease where the primary
defect is in the Cytoskeleton with secondary changes in the
lipid membrane of the cell. It is associated with deficiency
or abnormal synthesis of proteins that govern the
cytoskeleton of the cell like: Spectrin, ankryn, band 3 and
band 4.2. Another similar disease in regards its cellular
basis; Muscular Dystrophy; x-linked disorder involved in
muscle weakness and loss of tone due to abnormal

dystrophin gene which leads to muscfles not being able to


..contract as a bulk
Q6. Hereditary cellular diseases tend to be rare compared
to other non hereditary diseases (such as I-cell disease)
because they are restricted on the genetical level, thus they
can be prevented by awaring the carriers of such defective
genes and take the required measurements (in regards to
Mating, for instance). However, other non- hereditary
cellular diseases ( Sickle Cell Anemia) may arise
spontaneously and mostly no obvious prevention methods.
Thus they tend to be more common than hereditary
.diseases because the latter can be prevented
Q7. SERP2 (HER2) cellular surface receptors which are
overexpressed in breast cancer that responds to epidermal
growth factor (EGF) and may cause multiplication of cancer
cells Drugs involved; Herceptin which acts on these
receptors and stops EGF binding. Other diseases like
chronic heart failure is treated by Digoxin that targets the
Sarcolemmal Na+/K+ pump (intracellularly) and inhibits it..
Digoxin is used after using beta blockers/calcium channel
.blockers
Q8. Most targeted cancer therapies are either small
molecule drugs or monoclonal antibodies. The previous
example of breast cancer demonstrate a good small
molecule drug. The monoclonal antibodies cannot penetrate
the plasma membrane and are directed on cellular surface
or targets that are outside the cell. They are made of
identical immune cells (in contrast with polyclonal
antibodies) other targeted therapies induce cancer cells
to go apoptosis; Bortezomib (Velcade) for treatment of
patients with multiple myeloma and mantle cell lymphoma,
Carfilzomib (Kyprolis) another proteasome inhibitor used as
second treatment after Bortezomib