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Early Onset Alzheimer Research Paper

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Abstract :
Introduction :
Alzheimers : It is caused by the formation of the amyloid plaques and the neurofibrilary tangles.It is also referred to a state called Dementia,where the conditions like memory loss and daily life activities are affected.It accounts for about 60-80% of the dementia cases.Early onset alzheimers disease,the middle stage and the late onset alzheimer disease are the three types of alzheimers that occur.
Genetics in alzheimers :
Early onset alzheimers disease - This stage is predominant at the age of 30 to 60.This stage is generally caused due to the changes in any of the three genes that are responsible for various kinds of mutations which leads to the improper functioning of the nerve cells.This disease can be spread …show more content…
TAU is a protein that is involved in the formation of the tangles.The tau in the normal brain involves in stabilising the structure that is critical for the internal transport system in the nerve cell.The microtubules are the one that carries the nutrients up and down the neuron.when the TAU gets separated from the microtubules and gets accumulates in the brain keading to the formation of the …show more content…
Presenilin : It is part of the γ-secretase,which is a large protease complex that is involved in the degradation of the protein and cell signalling.Alzheimers disease is caused due to the formation of the amyloid β-protein from the proteolysis of the amyloid precursor protein.This leads to the formation of the plaques and tangles which are the main formations that lead to the alzheimers.
The mutation in the three genes lead to the formation of the amyloid β which is responsible for the cause of EOAD.
Mechanism :
Results:
• Presenilin 1 mutations in the Chinese families:
In this case, a genetic mutation was observed in the presenilin1 in the chinese family.Their family members were undergone through some tests that showes that the Presenilin1 gene had undergonw some mutation.The T nucleotide of the sequence and been replaced with the G that caused the mutaion in the 4th exon of gene at 314 site,which caused the change in the amino acid sequence.
Discussion :
Conclusion:
Referrences:
• Michael Hutton* and John Hardy : The presenilins and Alzheimer’s disease : Human Molecular Genetics, 1997, Vol. 6, No. 10 Review

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