The Molecular, Biochemical and cellular basis of genetic disease

What diseases involve enzymes?

PKU and Tay-Sachs

What is PKU

Phenylalanine is not converted to tyrosine so excess phenylalanine is found in the body

How to fix PKU?

Diet and enzyme supplement 

What is Tay-Sachs

Lysosomes are breaking down dimers until they explode

What are pseudo deficiency allele?

Benign alleles that has reduction in functional activity 

What is a example of defects in receptor proteins

Familiar Hypercholesterolemia

What is hypercholesterolemia?

Receptors dont sense the cholesterol to process and excrete

Is LDL or HDL a good lipoprotein?

HDL

What does gain of function variant do in hypercholesterimia ?

Increase PCSK, reduces LDLR, increase LDL, increased risk for CHD

What does loss of function variant do in hypercholesterimia?

Decrease PCSK9 activity, increased levels ofLDLR, decreased level of LDL, decreased risk of CHD

What is a transport defects?

Cystic Fibrosis

What mutation is occurring in cystic fibrosis?

CFTR transporter is mutated which doesn’t allow chloride and sodium to leave and accumulates causing coughing 

What is genocopy?

Similar phenotypes show varying genotypes on different loci

What is an example of structural proteins?

Duchenne Muscular Dystrophy 

What is the mutation with DMD?

Deletion of dystrophin gene 

What heterogeneity is DMD?

Phenotypic

IS BMD or DMD better?

BMD