Question

There have been a couple of genetic variants implicated in the development of TN. One of these variants is inherited, while the other is de novo. The inherited polymorphism associated with TN affects the 5-HTTLPR region of the SLC6A4 gene, which codes for serotonin transporters. This genetic variant is significantly more common in individuals with TN. The other gene associated with TN is the NaV 1.6 gene, which codes for voltage-gated sodium channels on neurons. This mutation has been shown to cause overexcitable neurons. In addition to specific genes, there are other less well-defined genetic variations that have been proposed to predispose one to TN. These variations can be categorized into those that could lead to neurovascular compression and those that lead to overexcitable neurons. What are the two genetic variants implicated in the development of TN?

1) Inherited polymorphism in the 5-HTTLPR region of the SLC6A4 gene
2) De novo mutation in the NaV 1.6 gene
3) Inherited polymorphism in the NaV 1.6 gene
4) De novo mutation in the 5-HTTLPR region of the SLC6A4 gene

Answer 1

TN is associated with an inherited polymorphism in the 5-HTTLPR region of the SLC6A4 gene and a de novo mutation in the NaV 1.6 gene, both influencing nerve functionality.

Step-by-step explanation:

The two genetic variants implicated in the development of TN (trigeminal neuralgia) are:

1. Inherited polymorphism in the 5-HTTLPR region of the SLC6A4 gene, which is linked to how serotonin transporters function.
2. De novo mutation in the NaV 1.6 gene, which impacts the functionality of voltage-gated sodium channels on neurons, leading to overexcited neuronal activity.

These genetic variations have been identified as contributing factors that can predispose individuals to TN, demonstrating the significance of genetics in the disorder's development.