Lecture 28: Neuropsychiatry and Gut

Question 1

Cons of Genome wide association studies (GWAS)

Answer 1

Requires large number of subjects with the same mutation.

Therefore tends to miss rare, high impact, mutations

Question 2

What type of mutation is a NL3R451C?

Answer 2

Point-mutation that substitutes a cysteine for an arginine at position 451 in protein

Question 3

True or false:

The NL3-R451C mutation causes ASD but preventing the expression of the NL-3 protein.

Answer 3

False, this mutation does not prevent the expression of the protein, it prevents the transfer of the protein into the post-synaptic densities of CNS neurons.

Question 4

True or false:
In order to see the altered colonic functions of the effect of the NL3-R451C mutation, there needs to be a disturbance in the system.

Answer 4

True.

Under normal circumstances, the altered colonic function is relatively similar to normal.