Point-of-Care Mutation Detection in Navajo Neurohepatopathy
Navajo neurohepatopathy (NNH) is a fatal genetic disorder often caused by 149G>A mutation in the MPV17 gene. NNH (affecting 1-in-1600 Navajo babies) is characterized by brain damage and liver disease/failure. Phoenix Children’s Hospital currently uses gene sequencing to identify the 149G>A mutation. While this process is conclusive, there are limitations, as it requires both time (3-4 weeks) and money (>$700). Ultimately, these factors create barriers that can directly impact a patient’s quality of life. Thus, the researchers propose using Tentacle Probe technology (TP) to develop a sensitive and specific rapid diagnostic tool for accurately detecting the 149G>A mutation.