Mutations in the Heme Exporter Cause Sensory Neurodegeneration with Loss of Pain Perception

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Hereditary Sensory and Autonomic Neuropathy (HSAN) is a genetic disorder mainly characterized by the impairment of sensory neurons, which transmit information about sensations such as pain, temperature and touch. Therefore, unintentional self-injury, leading to ulcers and eventually amputations are common in affected individuals. Although mutations in several genes were previously associated with sensory neurodegeneration and pain insensitivity, the etiology of many cases remains unknown. We here identify mutations in the heme exporter protein FLVCR1 in patients with congenital inability to experience pain. We showed that FLVCR1 mutations results in reduced heme export activity, enhanced oxidative stress and increased sensitivity to programmed cell death. These data assign a surprising role for heme to sensory neuron maintenance.

Vyšlo v časopise: Mutations in the Heme Exporter Cause Sensory Neurodegeneration with Loss of Pain Perception. PLoS Genet 12(12): e32767. doi:10.1371/journal.pgen.1006461
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1006461

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