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