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Sickle Cell Disease And Human Genotype Biology

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Human genotype is the most outstanding determiner of human pathogenesis. Thus the function of human cistron on the patterned advance and development of human disease can ne’er be neglected. A familial upset might be monogenetic which occurs due to mutant in a individual peculiar cistron. For case reaping hook cell disease, thalassaemia, Cystic fibrosis are the illustrations of monogenetic upset which are caused due to desert in a peculiar familial mutant. In contrast, in some familial upsets, mutant occurs in more than one cistron doing the same disease.

Thus Alzheimer ‘s disease and Parkinson ‘s disease which are caused due to involvement of more than one cistron can be termed as multigenic diseases.

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Sickle Cell Disease is a monogenetic upset in hemoglobin doing the Red Blood Cells ( RBC ) to organize an unnatural reaping hook form. This procedure is called sickling which finally consequences in the loss of flexibleness in RBC and other infective effects. The factor involved behind the sickling of RBC is the mutant of Beta Globin cistron located in chromosome 11.

This upset is prevailing in people originated from tropical and sub tropical parts where malariaA is /was common. About one 3rd autochthonal people of Sub- Saharan Africa bear this mutated Beta globin cistron. Sickle cell disease consequences into decreased life anticipation with mean life of male and female being 42 old ages and 48 old ages in affected males and females severally. ( Platt OS, A et Al, 1994 )

Pathophysiology:

A point mutationA in the I?-globin cistron of chromosome 11, which consequences in the permutation of hydrophilic glutamic acidA to by hydrophobic A valineA at the 6th place gives rise to mutated beta hematohiston bomber unit.When two mutated beta hematohiston fractional monetary units bind to two wild type alpha sub units, formation of a an abberent hemoglobin called HbS takes topographic point. Bing benign in nature, this mutant does non causeA any evident effects on theA secondary, A Tertiary, or quaternate structureA of hemoglobin in conditions of normalA oxygenA concentration. However, this HbS has a inclination to polymerise in low-oxygen tenseness and causes polymerization of the hemoglobin. In this procedure, the hydrophobic residues of the valine at place 6 of the beta concatenation of HbS associates with the hydrophobic spot, doing the hemoglobin molecules to aggregate and organize hempen precipitates. The perennial episodes of polymerisation and sickling causes lasting malformation on the form of RBC and decreased snap. When these deformed and stiff RBCs base on balls through the capillaries, they get occluded at that place due to decreased snap. Thus the adhesion of unnatural ruddy bloodA cellA ( RBC ) A toA the endothelium has been proposed as the likely initiatingA event of vasoocclusion, however the fluctuations in the endothelium activationA province may modulate the unpredictable happening of the major complications. ( A Hebbel RP, 1997 ) Inflammation is the major catalytic agent for this procedure. ( Kaul DK, Hebbel RP,2000 ) . This procedure finally consequences in ischemia.

The anaemia in reaping hook cell disease is caused byA haemolysis due to the devastation of the RBCs inside the lien. The rapid devastation rate of RBC exceeds the rate of refilling rate of bone marrow. Unlike A healthy red blood cells typically sickle cells survive merely for 10-20 days.Though the peripheral devastation of sickled RBCs have been considered to be outstanding characteristic of reaping hook cell disease, possible part of uneffective erythropoiesis toA the pathophysiology of this haemoglobinopathy is besides point to be considered. ( Catherine J. Wu et al,2005 ) .

Treatment:

Dietary cyanate or derived functions can be used on the intervention of reaping hook cell disease. Painful crisis due to vaso-occlusion can be managed by anodynes, opoid administration.Children born with sicle cell disease are given 1 milligrams dosage of folic acid per twenty-four hours throughout the life. As a addendum they are accompanied by a dosage of penicillin excessively, till the age of five old ages in order to safe guard from infections. In adults patients with acute thorax hurting due to vaso-occlusion, O supplementation, and blood transfusion can give alleviation. Bone marrow organ transplant has been found to be effectual in kids. ( Walters MC, Patience M, Leisenring W, A et al. , 1996 )

Hydroxyurea is the first sanctioned drug for the intervention of reaping hook cell anaemia which had successfully decreased the badness of onslaughts in a survey done by Charache et Al in 1995. “ ToA day of the month, A hydroxyurea ( HU ) is the lone drug knownA toA cut down the frequencyA of vasoocclusive crises, acute thorax syndromes ( ACSs ) , and transfusionA demands ” . ( Malika Benkerrou et Al, 2002 ) . The possible mechanism of action of hydroxyurea has been believed to be the reactivation of foetal heamoglobin in topographic point of HbS. Neverthless the long term usage of this drug as a chemotheraupetic agent has shown some hazards. ( A Platt OS, 2008 ) .

Gene therapy is the most fresh and most promising technique for intervention of monogenetic upset like reaping hook cell disease.

Alzheimer ‘s disease ( AD )

Alzheimer ‘s diseaseA ( AD ) , was named after German head-shrinker Alois Alzheimer who foremost described it in 1906 as a incurable, neurodegenerative disease by and large diagnosed in people more than 65 old ages of age. The study of September 2009 shows that figure of patients enduring from Alzheimer ‘s disease worldwide is more than 35 million. This prevalence has been expected to make up to 107 million by 2050. ( Brookmeyer, R et al,2007 ) .

Alzheimer ‘s disease is a type of aA protein misfoldingA disease ( proteopathy ) , caused by accretion of abnormally folded amyloid-beta and tau proteins in the encephalon. Hence it is besides called aA tauopathyA due to unnatural collection of theA tau protein in encephalon.

The clinical image of AD is variable, nevertheless the common characteristic is progressive dislocation of memory and cognitive maps like concluding. ( Nussbaum et al 2004 ) . Confusion, crossness, linguistic communication dislocation, aggression and long term memory loss are some of the symptoms that appear as the disease becomes more severe.This finally leads to loss of organic structure maps and decease. Most of the AD sick persons, are expected to last for around seven old ages after acquiring diagnosed.However, less than 3 % sick persons remain alive even after 14 old ages of diagnosing.

Pathophysiology

Ad is chiefly a sporadic disease and merely 0.1 per centum instances are familial which onst before the age of 65. Neverthless there are some cistrons that act as a hazard factor. ( Blennow K, de Leon MJ, Zetterberg H,2006 ) . Most of the familial autosomal dominant AD are due to mutant in one of the undermentioned cistrons: 1 ) APP ( Amyloid precursor protein ) cistron 2 ) presenilin1 and 3 ) Presinilin 2. Most of the mutant in APP or Presenilin gives rise to the production of AB42 ( Amyloid beta 42 ) which is the major portion of senile plaques that are seen in AD.

Apolipoprotein E ( APOE ) another familial factor associated with AD. APOE is really a common aminoacid involved in cholesterin conveyance. However it is besides detected in both plaques and neurofibraillary tangles associated with AD.Studies have shown that at least 40 to 80 per centum persons with AD possess at least one APOE 4 allelomorph.

Though the exact cause of oncoming of AD has non yet been revealed, some theories has been put frontward. They are: I ) Cholinergic hypothesis two ) Amyloid Hypothesis and three ) Tau Hypothesis.

The cholinergic hypothesis says that impaired synthesis of a neurotransmitter called acetylcholine is responsible for the oncoming of AD. ( Francis PT, Palmer AM, Snape M, Wilcock GK, 1999 ) . However this hypothesis was refuted by the grounds that medicines intended to handle acetylcholine lack could non bring forth assuring consequences.

Starchlike hypothesis holds the impression that deposition of starchlike beta protein ( ABP ) derived from starchlike beta precursor protein ( APP ) is the chief footing of the AD. This APP is encoded by APP cistron located on chromosome 21.

Harmonizing to this hypothesis, the plaques of AD are made up of smallA peptides calledA beta-amyloidA . Beta-amyloid is derived from a larger protein calledA amyloid precursor proteinA ( APP ) , which penetrates through the nerve cell ‘s membrane. APP has important function on neuron growing, endurance and post-injury repair.A In Alzheimer ‘s disease, APP is divided into smaller fragments byA enzymesA through proteolysis. Fibrils of beta-amyloid are derived from one of these fragments of APP. These filaments so organize bunchs.These clump sedimentations outside nerve cells are known asA senile plaques. The fibrils therefore formed disrupt the cell ‘s Ca ion homeostasis. This procedure finally consequences in programmed cell decease or programmed cell death. ( Yankner BA, Duffy LK, Kirschner DA,1990 )

In 2004, Tau hypothsis for AD emerged when starchlike hypothesis was challenged by the fact that amyloid plaques do non correlate with the neuron loss. ( Schmitz C, Rutten BP, Pielen A, A et al. , 2004 ) . Tau hypothesis emphasize that when hyperphosphorylated Tau braces with other yarn of Tau, formation of a neurofibrillary tangle takes topographic point inside the nervus cell organic structures.

As we know every nerve cell has aA cytoskeleton, partially made up ofA microtubules which help in steering different molecules from the organic structure of the cell to the terminals of theA axon. The Tau hypothesis says that A tauA protein stabilizes the microtubules whenA phosphorylated and undergoes chemical alterations, becomingA hyperphosphorylated. After that tau protein braces with other togss and creates neurofibrillary tangles. This procedure disintegrate the nerve cell ‘s conveyance system. ( Hernandez F, Avila J, 2007 ) . As a consequence, biochemical communicating Michigans between the nerve cells taking to decease of cell.

Therapy/Management

Since Alzheimer ‘s disease does non hold any remedy so far, merely diagnostic intervention can be given to the sick persons. AD can be managed by following facets:

Pharmaceutical

Acetylcholinesterase inhibitorsA are used to cut down the rate ofA acetylcholineA broken down.

GlutamateA which is a utile excitatoryA neurotransmitterA of theA nervous system.

MemantineA ( trade name namesA Akatinol, A Axura, A Ebixa/Abixa, A MemoxA andA Namenda ) , A is a noncompetitiveA NMDA receptor antagonistA

AntipsychoticA drugs can be used to reduceA aggressionA andA psychosisA in Alzheimer ‘s patients with behavioral jobs

PsychosocialA intercessions

Psychosocial intercession is complementary to pharmaceutical intervention in AD patients. Especially dementedness is managed by psychosocial intercession.

Caregiving

Since AD renders people incapable of carry throughing their ain demands, caregiving is really indispensable.

COMPARATIVE OVERVIEW OF SICKLE DISEASE AND ALZHEIMER ‘S DISEASE

Sickle cell disease SCD ) a familial individual cistron upset caused due to mutant of beta hematohiston cistron in chromosome 11 due substitutuin of glutamic acid by valine whereas alzheimer ‘s disease is multigenic disease caused due to mutant in multiple cistrons like beta APP, PS1, PS2 and APOE. SCD is a entirely an familial upset, nevertheless AD is really seldom a familial. Both of these upsets involve the change on the construction of protein. However, SCD is fundamentally a haemoglobinopathy due to polymerisation of the abnormally synthesized haemoglobin. In contrast, AD evolves from accretion of beta starchlike peptide in encephalon leading to cognitive abnormalcies and devolution of nerve cells.

. Whereas in alzheimer ‘s disease, mutant leads to upset ubiquitin proteosome tract that leads to protein collection ensuing the disease. Antibiotics and cistron therapy helps in some extent in CF, if non lung organ transplant is the terminal phase therapy used which helps to widen life span to few old ages because lungs are the most affected variety meats but in alzheimer ‘s encephalon is affected organ and antidementia drugs, memantine, donepezil are used and good diet and exercising besides play of import function in cut downing hazard of the disease and the patients have encephalon upset but non in CF patient. Although both are protein misfolding diseases, there are many unsimilarities between them as mentioned above. CF occurs in all age groups ( new Borns, kids, grownups, aged people ) but alzheimer ‘s largely occurs in aged people therefore, CF is more unsafe disease than alzheimer ‘s.

Cite this Sickle Cell Disease And Human Genotype Biology

Sickle Cell Disease And Human Genotype Biology. (2016, Dec 07). Retrieved from https://graduateway.com/sickle-cell-disease-and-human-genotype-biology-essay/

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