Chapter 17 - Chapter 17: Genome Sequencing, Molecular...

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Chapter 17: Genome Sequencing, Molecular Biology, and Medicine I. Defective Proteins to Disease a. Mutation in DNA RNA Proteins i. Change in sequence of DNA changes RNA and changes/prevents protein b. Mutant proteins differ from wild-type i. Proteins can be: ii. Enzymes 1. Catalyze reaction iii. Receptors 1. Anchored in membrane of host cell 2. Sense and send signals iv. Transport proteins 1. Channels 2. Bind something on outside and flip over to let it in v. Structural proteins, etc. 1. Create cell structure c. Phenylketonuria (PKU) i. Normal = Phenylalanine to tyrosine ii. Bad = Phenylalanine to phenylpyruvate iii. Defective enzyme 1. Phenylalanine hydroxylase iv. Chromosome 12 mutation changes 408 th AA from arginine to tryptophan v. Symptoms: 1. Lack of tyrosine i. Substrate for pigment 2. Accumulation of Phenylpyruvate a. Brain damage, seizures d. Sickle Cell Anemia i. Mutation in a β -globin (O 2 carrying protein) ii. Clumps cell together 1. Change from glutamic acid (-) to valine (neutral charge) e. Hypercholesterolemia i. Mutated Receptor Protein ii. Receptors: Sensors or transport proteins iii. Familial hypercholesterolemia 1. Excess cholesterol accumulation in arteries iv. Genetically susceptible to heart attacks and strokes v. Normal people LDL lets cholesterol breakdown in liver and such 1. LDL receptor is defective 2. No cholesterol uptake by liver and other cells f. Cystic fibrosis : i. Nonfunctional chloride transporter protein.
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ii. Transport Cl - outside as well as water so cilia stays moist iii. Transporter broken so Cl - stays in cell and water can’t get out 1. Become hard g. DMD: Duchenne muscular dystrophy i. Defective structural protein ii. Dystrophin connects actin fibers to the extracellular matrix. iii. Dystrophin missing 1. muscle cells are structurally disorganized, and stop working 2. Partial/entire gene deletion h. TSEs ( Transmissible spongiform encephalopathies ) i. Mis-folded proteins ii. Brain gets holes and becomes like sponge iii. Neurodegenerative diseases
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This note was uploaded on 01/27/2011 for the course BIOSC 0160 taught by Professor Bledsoe during the Spring '08 term at Pittsburgh.

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Chapter 17 - Chapter 17: Genome Sequencing, Molecular...

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