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Related Concept Videos

Taste Buds and Receptors01:20

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Gustation, or the sense of taste, is intrinsically linked to the anatomical structures located on the tongue. This organ's surface, along with the entirety of the oral cavity, is adorned with stratified squamous epithelium. Evident on the tongue are elevated structures known as papillae (singular = papilla), which house the mechanisms for the transduction of gustatory stimuli. Four distinct types of papillae exist, each identified by their unique morphological attributes: the circumvallate,...
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The process of olfaction, also known as the sense of smell, is a sophisticated chemical response system. The specialized sensory neurons that facilitate this process, known as olfactory receptor neurons, are situated in an upper segment of the nasal cavity, known as the olfactory epithelium. Olfactory sensory neurons are bipolar, with their dendrites extending from the epithelium's apex into the mucus that lines the nasal cavity. Airborne molecules, when inhaled, traverse the olfactory...
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Gustation is a chemical sense that, along with olfaction (smell), contributes to our perception of taste. It starts with the activation of receptors by chemical compounds (tastants) dissolved in the saliva. The saliva and filiform papillae on the tongue distribute the tastants and increase their exposure to the taste receptors.
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The sense of smell is achieved through the activities of the olfactory system. It starts when an airborne odorant enters the nasal cavity and reaches olfactory epithelium (OE). The OE is protected by a thin layer of mucus, which also serves the purpose of dissolving more complex compounds into simpler chemical odorants. The size of the OE and the density of sensory neurons varies among species; in humans, the OE is only about 9-10 cm2.
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The perception of a salty flavor is facilitated by sodium ions within the oral salivary fluid. Upon consumption of a salty substance, salt crystals disassemble, leading to the liberation of its constituents—Na+ and Cl- ions. These ions subsequently dissolve into the salivary fluid present in the oral cavity. The external environment of the gustatory cells experiences an elevation in Na+ concentration, thereby establishing a potent concentration gradient. This gradient propels the...
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Taste Exam: A Brief and Validated Test
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Taste and smell function in Wolfram syndrome.

Raul Alfaro1, Tasha Doty2, Anagha Narayanan2

  • 1Department of Food Science and Human Nutrition, University of Illinois at Urbana Champaign, Urbana, IL, USA.

Orphanet Journal of Rare Diseases
|February 24, 2020
PubMed
Summary

Wolfram syndrome impairs smell identification and taste perception, particularly sweetness and saltiness in the anterior tongue. These chemical sense alterations may serve as future clinical markers for this rare genetic disease.

Keywords:
DIDMOADNeurodegenerationOlfactionSniffin’ sticksTasteUPSITWolfram syndrome

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Area of Science:

  • Neuroscience
  • Genetics
  • Endocrinology

Background:

  • Wolfram syndrome is a rare genetic disorder causing diabetes, optic atrophy, hearing loss, and neurodegeneration.
  • Olfactory dysfunction is a known neurodegenerative marker, but its role in Wolfram syndrome is under-researched.
  • The impact of Wolfram syndrome on taste perception remains largely unknown.

Purpose of the Study:

  • To investigate olfactory and gustatory function in individuals with Wolfram syndrome.
  • To compare sensory perception between Wolfram syndrome patients, type 1 diabetes patients, and healthy controls.
  • To explore potential clinical applications of chemosensory function as biomarkers for Wolfram syndrome progression.

Main Methods:

  • Assessed smell sensitivity (n-butanol detection) and identification (UPSIT) in 40 Wolfram syndrome patients, 25 type 1 diabetes patients, and 29 healthy controls.
  • Evaluated taste function using NIH Toolbox, assessing sweet, salty, and bitter perception regionally and whole-mouth.
  • Analyzed differences in sensory perception across the three study groups using statistical methods.

Main Results:

  • Smell identification was significantly impaired in Wolfram syndrome patients compared to both control groups (P < 0.001).
  • Wolfram syndrome patients exhibited blunted regional perception of sweetness and saltiness (P < 0.05).
  • No significant differences in taste intensity perception were found when stimuli were tasted with the whole mouth, and sucrose preference was similar across groups.

Conclusions:

  • Wolfram syndrome is associated with qualitative olfactory dysfunction, likely due to central olfactory pathway impairment.
  • Taste perception is largely preserved in Wolfram syndrome, despite reduced anterior tongue taste intensity.
  • Chemosensory function, particularly smell identification, warrants further investigation as potential clinical markers for Wolfram syndrome.