1. A Genetic Basis for Mechanosensory Traits in Humans
- Author
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Katrin Pinsker, Jens Jordan, Daniela Schiska, Kathrin Saar, Franz Rüschendorf, Bärbel Wohlleben, Manfred Gross, Henning Frenzel, Gary R. Lewin, José M. Millán, Stefan G. Lechner, Jörg Bohlender, Jens Tank, Teresa Jaijo, and University of Zurich
- Subjects
QH301-705.5 ,Hearing loss ,Usher syndrome ,Population ,610 Medicine & health ,10045 Clinic for Otorhinolaryngology ,Sensory system ,1100 General Agricultural and Biological Sciences ,Biology ,medicine.disease_cause ,General Biochemistry, Genetics and Molecular Biology ,03 medical and health sciences ,0302 clinical medicine ,1300 General Biochemistry, Genetics and Molecular Biology ,2400 General Immunology and Microbiology ,Heredity ,otorhinolaryngologic diseases ,medicine ,Inheritance Patterns ,Biology (General) ,10. No inequality ,education ,030304 developmental biology ,Genetic testing ,Genetics ,0303 health sciences ,education.field_of_study ,integumentary system ,General Immunology and Microbiology ,medicine.diagnostic_test ,General Neuroscience ,2800 General Neuroscience ,medicine.disease ,Twin study ,Cardiovascular and Metabolic Diseases ,medicine.symptom ,Function and Dysfunction of the Nervous System ,General Agricultural and Biological Sciences ,030217 neurology & neurosurgery - Abstract
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.
- Published
- 2012
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