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Loss-of-function mutations in sodium channel Na<sub>v</sub>1.7 cause anosmia
Weiss, Jan,Pyrski, Martina,Jacobi, Eric,Bufe, Bernd,Willnecker, Vivienne,Schick, Bernhard,Zizzari, Philippe,Gossage, Samuel J.,Greer, Charles A.,Leinders-Zufall, Trese,Woods, C. Geoffrey,Wood, John N. Nature Publishing Group, a division of Macmillan P 2011 Nature Vol.472 No.7342
Loss of function of the gene SCN9A, encoding the voltage-gated sodium channel Na<SUB>v</SUB>1.7, causes a congenital inability to experience pain in humans. Here we show that Na<SUB>v</SUB>1.7 is not only necessary for pain sensation but is also an essential requirement for odour perception in both mice and humans. We examined human patients with loss-of-function mutations in SCN9A and show that they are unable to sense odours. To establish the essential role of Na<SUB>v</SUB>1.7 in odour perception, we generated conditional null mice in which Na<SUB>v</SUB>1.7 was removed from all olfactory sensory neurons. In the absence of Na<SUB>v</SUB>1.7, these neurons still produce odour-evoked action potentials but fail to initiate synaptic signalling from their axon terminals at the first synapse in the olfactory system. The mutant mice no longer display vital, odour-guided behaviours such as innate odour recognition and avoidance, short-term odour learning, and maternal pup retrieval. Our study creates a mouse model of congenital general anosmia and provides new strategies to explore the genetic basis of the human sense of smell.
Sebastian S Zeki,Ismail Miah,Pierfrancesco Visaggi,Anna Wolak,Minerva deSilva,Jason M Dunn,Andrew Davies,James Gossage,Abrie Botha,Guiping Sui,Jafar Jafari,Terry Wong 대한소화기 기능성질환∙운동학회 2023 Journal of Neurogastroenterology and Motility (JNM Vol.29 No.3
Background/AimsExtended wireless pH monitoring (WPM) is used to investigate gastroesophageal reflux disease (GERD) as subsequent or alternative investigation to 24-hour catheter-based studies. However, false negative catheter studies may occur in patients with intermittent reflux or due to catheter-induced discomfort or altered behavior. We aim to investigate the diagnostic yield of WPM after a negative 24-hour multichannel intraluminal impedance pH (MII-pH) monitoring study and to determine predictors of GERD on WPM given a negative MII-pH. MethodsConsecutive adult patients (> 18 years) who underwent WPM for further investigation of suspected GERD following a negative 24-hour MII-pH and upper endoscopy between January 2010 and December 2019 were retrospectively included. Clinical data, endoscopy, MII-pH, and WPM results were retrieved. Fisher’s exact test, Wilcoxon rank sum test, or Student’s t test were used to compare data. Logistic regression analysis was used to investigate predictors of positive WMP. ResultsOne hundred and eighty-one consecutive patients underwent WPM following a negative MII-pH study. On average and worst day analysis, 33.7% (61/181) and 34.2% (62/181) of the patients negative for GERD on MII-pH were given a diagnosis of GERD following WPM, respectively. On a stepwise multiple logistic regression analysis, the basal respiratory minimum pressure of the lower esophageal sphincter was a significant predictor of GERD with OR = 0.95 (0.90-1.00, P = 0.041). ConclusionsWPM increases GERD diagnostic yield in patients with a negative MII-pH selected for further testing based on clinical suspicion. Further studies are needed to assess the role of WPM as a first line investigation in patients with GERD symptoms.