Reference no: EM132833058

BL2013 Molecules to Cells - University of Central Lancashire

Pseudo-Hurler Polydystrophy (Mucolipidosis type III)

The genetic causes of the disease
o What gene and protein is affected? Mahnoor
o What is the usual function of this protein? Mahnoor

The phenotypic results of the genetic cause at the cellular and molecular levels

What happens to the protein? Sinthu
o What happens within the cell? Dlkshya
o Which processes or pathways are affected? Connor

The health implications of the disease
o What are the symptoms? Bhuwan
o Link the cell and molecular biology to the symptoms Bhuwan

Any other information you feel is pertinent to the disease in the context of its molecular and cellular biology.

In your presentation you will need to discuss:
• The genetic causes of the disease
o What gene and protein is affected?
o What is the usual function of this protein?
• The phenotypic results of the genetic cause at the cellular and molecular levels
• What happens to the protein?
• What happens within the cell?
o Which processes or pathways are affected?
• The health Implications of the disease
o What are the symagme2
o tafficthesell end molecule, *logy to the symptoms

Learning outcome 1: Explain how genomes are maintained, copied, inherited and mutated.

Learning outcome 2: Describe how regulation at the epigenomic, transcriptomic. proteomic and metabolomic levels impact cellular function.

Learning outcome 3: Describe how protein folding, maturation, modification, trafficking and tumove contribute to cell growth, proliferation and death.
Learning outcome 4: Discuss the contribution of genotype to phenotype in the context of human genetic disease.

Attachment:- Assessment_Brief_Group_Presentation.rar