Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathy - PubMed
6 days ago
- #mitochondrial dysfunction
- #FLVCR1 gene
- #sensory neuropathy
- FLVCR1-related sensory neuropathy is linked to mitochondrial energetic failure.
- Two new patients with novel FLVCR1 variants were reported, and a zebrafish disease model was introduced.
- Patient-derived fibroblasts showed compromised FLVCR1 functions affecting choline levels, heme biosynthesis, and mitochondrial Ca2+ handling.
- The study found that these alterations impair the TCA cycle, OXPHOS, and induce lipid peroxidation.
- Energetic metabolism alterations are identified as a potential key pathomechanism in FLVCR1-associated sensory neuropathy.