A genetic basis for mechanosensory traits in humans

In all vertebrates hearing and touch represent two distinct sensory systems that both rely on the transformation of mechanical force into electrical signals. There is an extensive literature describing single gene mutations in humans that cause hearing impairment, but there are essentially none for...

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Bibliographic Details
Published in:PLoS biology 2012-05, Vol.10 (5), p.e1001318-e1001318
Main Authors: Frenzel, Henning, Bohlender, Jörg, Pinsker, Katrin, Wohlleben, Bärbel, Tank, Jens, Lechner, Stefan G, Schiska, Daniela, Jaijo, Teresa, Rüschendorf, Franz, Saar, Kathrin, Jordan, Jens, Millán, José M, Gross, Manfred, Lewin, Gary R
Format: Article
Language:English
Subjects:
Acuity
Adolescent
Adult
Age Factors
Baroreflex
Biology
Cohort Studies
Deafness
Extracellular Matrix Proteins - genetics
Female
Genetic Testing
Genetics
Genotype
Hearing loss
Hearing Loss - congenital
Hearing Loss - genetics
Humans
Inheritance Patterns
Male
Mechanotransduction, Cellular
Medicine
Mutation
Phenotype
Point mutation
Sensory systems
Tactile stimuli
Temperature
Touch - genetics
Transformation
Twins
USH2A protein
Usher Syndromes - genetics
Young Adult
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Summary:In all vertebrates hearing and touch represent two distinct sensory systems that both rely on the transformation of mechanical force into electrical signals. There is an extensive literature describing single gene mutations in humans that cause hearing impairment, but there are essentially none for touch. Here we first asked if touch sensitivity is a heritable trait and second whether there are common genes that influence different mechanosensory senses like hearing and touch in humans. Using a classical twin study design we demonstrate that touch sensitivity and touch acuity are highly heritable traits. Quantitative phenotypic measures of different mechanosensory systems revealed significant correlations between touch and hearing acuity in a healthy human population. Thus mutations in genes causing deafness genes could conceivably negatively influence touch sensitivity. In agreement with this hypothesis we found that a proportion of a cohort of congenitally deaf young adults display significantly impaired measures of touch sensitivity compared to controls. In contrast, blind individuals showed enhanced, not diminished touch acuity. Finally, by examining a cohort of patients with Usher syndrome, a genetically well-characterized deaf-blindness syndrome, we could show that recessive pathogenic mutations in the USH2A gene influence touch acuity. Control Usher syndrome cohorts lacking demonstrable pathogenic USH2A mutations showed no impairment in touch acuity. Our study thus provides comprehensive evidence that there are common genetic elements that contribute to touch and hearing and has identified one of these genes as USH2A.
ISSN:1545-7885
1544-9173
1545-7885
DOI:10.1371/journal.pbio.1001318