055, 056 Biological basis of neurodegeneration

Question 1

What chromosome/gene results in hyperphosphorylation?

Answer 1

MAPT gene chromosome 17

Question 2

What is the most common mutation in familial alzhemers

Answer 2

Presenilin 1 and presenilin 2 –> produce secretase that cleaves the C terminus of APP

Question 3

What chromosome is the amyloid precursor protein found on?

Answer 3

Chromosome 21

Question 4

Describe the hippocampal formation?

Answer 4

1. Stellate neurons of lateral and medial entorhinal cortex project the dentate gyrus via the perforant path.
2. Granule cells project to the CA3 pyramidal cells
3. CA3 projects to CA1 via schaffer collateral
4. CA1 project to subiculum (most inferior part of hippocampal formation)
5. Subiculum projects to deeper layers of entorhinal cortex
6. Subiculum and CA1 pyramidal cells of hippocampus project to lateral septal nucleus and mammillary bodies via fornex.

Question 5

What is hte main familial cause of ALS?

Answer 5

SOD1 on chromosome 21

This breaks down superoxide into water and H2O2, through steps mediated by copper atom.