Tutorial title - The molecular and biochemical basis of disease

16 important questions on Tutorial title - The molecular and biochemical basis of disease

What is the only type of disease without any genetic component?

Trauma

What are the effects of mutation on function?

1. Loss or gain of function
2. Novel (new) property
3. Incorrect expression

What are the variants caused by mutation?

Variants in...
- coding region
- RNA stability or splicing
- gene regulation or dosage
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List the different classes of functional proteins

1. Enzymes
2. Structural proteins
3. Organelles
4. Nuclear proteins
5. Cytoplasmic proteins
6. Cell surface proteins

Mutations in what type of proteins can lead to genetic disease?

In every functional class of proteins

What are housekeeping proteins?

Proteins expressed in virtually every cell that maintain cell structure and function

How much of the cellular mRNA does housekeeping proteins account for?

90% of mRNA

What are tissue-specific specialty proteins?

Proteins only produced in one or a limited number of cell types that has unique functions which contribute to the individuality of the cells

What kind of diseases does mutations in tissue-specific proteins most often produce?

Diseases restricted to that tissue

Why does a mutation in housekeeping genes rarely cause pathological changes in every tissue with that housekeeping gene?

Because of genetic redundancy and the variation in functional reliance of different tissues on that housekeeping gene

What is genetic redundancy?

The presence of other genes with overlapping biological activities that reduce the impact of a loss-of-function mutation.

What are the 3 possible genetic variations from phenotypic variation?

1. Allelic heterogeneity
2. Locus heterogeneity
3. Modifier genes

What is allelic heterogeneity?

The existence of many different disease-causing alleles at the same locus, suggesting genotype-phenotype correlation

What is locus heterogeneity?

Same phenotype with different loci of mutations

What are modifier genes?

Genes that alter the expression of other genes, influencing the phenotype from a mutation at another locus

How many genes of the human genome encode for enzymes?

Greater or equal to 5000 genes

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