Human Genetics

Question 1

4 Genes Implicated in Parkinson’s Disease

Answer 1

α-synuclein
Parkin
PINK1
LRRK2

Question 2

Lewy Bodies

Answer 2

Aggregates of organelles and proteins inside nerve cells. They contribute to Parkinson’s Disease, but they are not present in all Parkinson’s patients. However, they are found in other neurodegenerative diseases

Question 3

Substantia nigra

Answer 3

Cell death in this region of the brain is heavily associated with Parkinson’s Disease.

Question 4

Treatment of Parkinson’s Disease

Answer 4

Deep Brain Stimulation and/or Dopamine alleviate symptoms, but there is currently no cure.

Question 5

Braak’s Hypothesis

Answer 5

α-synuclein protein forms toxic protein aggregates that may be able to spread from from cell to cell. Misfolding of α-synuclein causes pathology. Most neurological diseases are caused by misfolded proteins. These protein aggregates: Prions

Question 6

Each of the 4 genes Implicated in Parkinson’s Disease roles:

Answer 6

α-synuclein: Duplication and triplication of the gene causes Parkinson’s Disease

PINK1 and Parkin: Leads to degradation of defective mitochondria, so build of of defective mitochondria in mutants.

LRRK2: Interacts with a RING finger domain of Parkin. Dominant mutations in the gene cause Parkinson’s Disease.