Genetic Test
The NDRG1 (N-Myc Downstream Regulated 1) gene encodes a protein that is responsive to cellular stress and hormonal signals and is broadly involved in cell growth, differentiation, and survival.
This protein is particularly essential for the development and maintenance of myelin sheaths, which insulate peripheral nerves and enable proper nerve signal transmission.
Mutations in the NDRG1 gene have been linked to peripheral neuropathies, as disruption of myelin integrity leads to progressive nerve dysfunction.
Additionally, NDRG1 has been implicated in tumor suppression, as it plays a role in regulating apoptosis and inhibiting cancer cell proliferation.
This genetic test targets two known mutations in the NDRG1 gene associated with peripheral neuropathy.
Disease Description
Peripheral neuropathy is a neuromuscular disorder caused by damage to the peripheral nervous system, which includes the motor and autonomic nerves outside the brain and spinal cord.
This condition may result from demyelination (loss of the protective myelin sheath) or axonal degeneration, both of which impair nerve signal transmission.
As the disease progresses, it leads to generalized muscle weakness and reduced mobility throughout the body.
