Familial Amyotrophic lateral sclerosis

Prepare a 1000 word review article that successfully discusses the underlying genetic and molecular pathophysiology of that disorder using your understanding of basic principles of molecular biology & genetics covered in the module. The 1000 review article should provide a brief overview of the symptoms and treatments but should focus onthe genetic component of this disease and the molecular consequences of the disease-causing mutation. If your disorder involves several genes, mention this but focus the assignment on one specific gene.The article should also include a 150 word lay abstract and a 150 word scientific abstract which is not included in the 1000 word count.

The body of the review article needs to include all of the following information:

a) A description of the clinical features, symptoms and prognosis of the disease;

b) Gene(s) or chromosome region(s) involved, with an html reference to the relevant page of the ensembl.org database.

c) Details of the precise molecular abnormality that causes the disease, i.e. thenature of mutation(s) or anomaly;d) Frequency of the trait in the UK and/or other populations;

e) Mode of genetic inheritance (dominant/recessive, autosomal/sex-linked?);

f) A molecular technique which can be used to diagnose this mutation;

g) Possible mechanism of how the mutation may have originated;

h) An explanation of the mechanistic basis for the disorder (molecular biology,biochemistry, physiology) specifically, what is the function of the wild-typeprotein and how is its molecular function altered as a result of the mutation;

i) An explanation of how the molecular defect affects cell, tissue or organbehaviour that leads to a disease at the organismal level.Your review should be fully referenced in the Harvard style (the reference list for allelements of this coursework assignment should be presented at the end of the entiredocument). Referencing/in-text citations are not included in the word count.

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