Is dFNA9 a progressive audiovestibular dysfunction with a microfibrillar deposit in the inner ear?
The findings indicate progressive vestibular dysfunction in many of the patients affected with hearing loss. Thus, despite different mutations in the COCH gene, the American and European families manifest auditory and vestibular dysfunction. Electron microscopic analysis shows the spiral ligament to be enriched for a highly branched non-banded microfibrillar substance that is decorated with glycosaminoglycan granules. Additionally, the spiral ligament lacks the 67-nm-thick straight periodically banded bundles of type II collagen that are normally abundant in this structure. A speculative pathogenetic model is proposed for this unique disease and its relationship with other late-onset or adult-onset audiovestibular diseases and Meniere's disease is investigated.
PFKs were critical genes in charge of glycolysis and were upregulated in bladder cancer. Targeting this pathway could inhibit cell growth in bladder cancer.