Clinical Consequences

Question 1

Tay Sachs Disease

Answer 1

Failure of lysosomes (specifically hydrolytic Hexosaminidase enzyme) to degrade lipids.
Lipids (gangliosides) accumulate in neurons
Neurodegeneration, blindness, seizures, usually death
Autosomal Recessive

Question 2

Kartagener’s Syndrome

Answer 2

Mutation in Dynein motor protein in microtubules
Causes problems with cilia and flagella movement
Result: recurrent resp. infection, infertility (males)
Autosomal Recessive

Question 3

Epidermolysis Bullosa Simplex

Answer 3

Hemidesmosome Dysfunction
Microtubule dysfunction
Causes severe blistering of skin and epidermal-dermal junction is not functioning properly.

Question 4

Taupathy related disorders

Answer 4

Neurodegeneration caused by hyperpolarization of protein tau. Hyperpolarization causes tau to dissociate from microtubules of neuronal axons, and aggregate into tangles, causing microtubule destabilization.
Includes diseases such as Alzheimer’s and Parkinson’s.

Question 5

Human Epidermal Growth Factor 2 (Her2) overexpression.

Answer 5

Overexpression of Her2 leads to excessive cells growth and divisions, which can lead to breast cancer.
20-30% of breast cancers have Her2 Gene Amplification.
Can be treated with trastuzumab, a monoclonal antibody that binds and blocks Her2 activation on epithelial cell surface.