In a recent study examining the causes of motor and sensory neuropathy, researchers have located a gene that has the potential to cause it.
Neuropathy is a condition in which the peripheral nerves are damaged and can cause numbness and tingling, pain and weakness. This usually occurs in the outermost parts of the body but can also go up the individual's arms and legs. Due to this condition’s potential to severely limit mobility, neuropathy can be extremely debilitating and life altering.
In this study, researchers identified a missense mutation in a gene regulating nicotinamide phosphoribosyl transferase, an enzyme that regulates DNA repair and metabolic processes. Both in human individuals homozygous for the mutation and in mouse models, the missense mutation in the NAMPT gene disrupted metabolic processes and caused neuropathy. This study marks the first human neurological disease caused by a mutation in the NAMPT gene.
This research is very important because of how difficult it is to effectively treat neuropathy in many cases. By finding a genetic component to this disease, researchers in the medical field may also find new ways to treat it.
Sources:
https://www.science.org/doi/10.1126/sciadv.adx2407
https://pubmed.ncbi.nlm.nih.gov/28333140/
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