Does a homozygous mutation in the Semaphorine7a-gene influence the gustatory function?

Le résumé fourni par la source

Introduction: The group of Semaphorins plays a key-role in wiring taste-receptor-cells to their taste-specific ganglion-cells. In a mouse model Semaphorin3a (Sema3a, soluble) seems to be important to connect “bitter” receptor-cells to their neurons, while the membrane-bound Sempahorina7a guides the connection for the taste-quality “sweet”. Methods: We performed a three-drop-test on the only known patient (female, 45 years old, subjective good taste- and smell-sense, non-smoker, no other diseases, after pregnancy antibodies against Sema7a) with a homozygous mutation in the Sema7a-Gene for discriminating the threshold for the taste-qualities sweet, bitter, sour and salty. We also performed a screening-olfactometry with 12 sniffing-sticks. Results: Normal ENT-status (slight deviation of the nasal septum to the right side), no nasal obstruction in rhinomanometry. No hyposmia in screening-olfactometry. Normal age-correlated taste-sense in the 3-drop-test for all taste-qualities (Sucrose: 0,19 g/ml, Sodium chloride: 0,15 g/ml, Citric acid: 0,06 g/ml, Quinine hydrochloride: 0,0012 g/ml; normative values as described by Gudziol/Hummel, 2007). Conclusions: The taste-sense is not diminished for all taste qualities. The existence of a soluble Sema7a is possible (mutation eventually only in the membrane-bound part of Sema7a), the antibodies might cause a shorter plasma half-value-period, which is still long enough for a correct connection. Sema3a (bitter) is also soluble. The existence of other connector-proteins and the central neuroplasty is also thinkable as a reason for the normal taste-sense. Publication History Publication Date: 18 April 2018 (online) © 2018. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/). Georg Thieme Verlag KG Stuttgart · New York

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.