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Molecular and biochemical basis of disease

Molecular Disease does what to DNA? Mutation in DNA that alters function in protein.
What are the 4 different effects on proteins that cause mutations? 1. Loss of function // 2. Gain of function // 3. Gain of novel property by mutant protein // 4. Expression of gene at: wrong location and/or wrong time
Types of mutation Insertions/ Deletions/ Rearrangements/ Nucleotide substitutions/ are what type of effects on proteins? Loss of Function
What disease is an example of loss of function due to a deletion? Alpha-Thalassemias
What disorders are m/c single gene disorders in humans? Disorders in Hemoglobins
What is the most common human gene disorders? Thalassemia
Of Thalassemia disorders what is the most common form? Alpha-Thalassemia
Heterozygote Sickle Cell Hemoglobin (HbS) is clinically normal unless subjected to what? Low oxygen pressure (flying high altitudes with low cabin pressure) causes RBC to become sickle shape and stick together not allowing flow through capillaries.
Allelic Heterogeneity More than one allele causes disease
Locus Heterogeneity More than one locus (gene) causes disease.
Phenotypic Heterogeneity Affects each person differently. // Different mutations in same gere cause completely different phenotypes. // Ex Receptor Tyrosine Kinase (RET)
Sickle cell would be an allelic heterogeneity? true or false? False: Sickle cell only has one allele change.
What would be an example of Defects in Receptor Proteins-cell membrane location? Familial Hypercholesterolemia
Familial Hypercholesterolemia: Homozygous affected risk? // Heterozygous affected risk? // Mode of Inheritance? // Does allelic heterogeneity exist with this disease? Homo = 100% affected // Hete = 50% affected // Autosomal Dominant // Yes allelic heterogeneity exist b/c more than one allele causes the same disease
Give Example of Transport Defect Disease. Cystic Fibrosis: Autosomal recessive /// Salty baby b/c chloride channel in epithelial cells // lung mucus problem b/c of this and increased risk of infections // Avg Age Death 33
What disease is a Structural Protein Disorder? Duchenne Muscular Dystrophies: X-Linked // Death 20 yrs old //
What disease is caused by an Expansion of Unstable Repeat Sequences? Most are Neurological // Huntington's Disease: Autosomal Dominant // Novel property mutants is a new function of protein that damage neurons. //
Created by: cmuox2000 on 2011-10-22

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