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