Molecular and biochemical basis of disease
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| Molecular Disease does what to DNA? | Mutation in DNA that alters function in protein.
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| 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
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| Types of mutation Insertions/ Deletions/ Rearrangements/ Nucleotide substitutions/ are what type of effects on proteins? | Loss of Function
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| What disease is an example of loss of function due to a deletion? | Alpha-Thalassemias
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| What disorders are m/c single gene disorders in humans? | Disorders in Hemoglobins
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| What is the most common human gene disorders? | Thalassemia
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| Of Thalassemia disorders what is the most common form? | Alpha-Thalassemia
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| 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.
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| Allelic Heterogeneity | More than one allele causes disease
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| Locus Heterogeneity | More than one locus (gene) causes disease.
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| Phenotypic Heterogeneity | Affects each person differently. // Different mutations in same gere cause completely different phenotypes. // Ex Receptor Tyrosine Kinase (RET)
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| Sickle cell would be an allelic heterogeneity? true or false? | False: Sickle cell only has one allele change.
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| What would be an example of Defects in Receptor Proteins-cell membrane location? | Familial Hypercholesterolemia
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| 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
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| 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
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| What disease is a Structural Protein Disorder? | Duchenne Muscular Dystrophies: X-Linked // Death 20 yrs old //
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| 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. //
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