Abstract |
Heterozygosity for mutations in the fibrillar collagen gene COL11A1 causes sensorineural hearing loss in patients with Stickler syndrome or Marshall syndrome. Chondrodysplasia (cho) is a functional null allele of Col11a1 that causes lethal chondrodysplasia in cho/cho newborn mice, and osteoarthritis in cho/+ heterozygotes. To determine if Col11a1 haploinsufficiency causes hearing loss in cho/+ mice, auditory brainstem response (ABR) thresholds were measured at 2, 4, 6, 8 and 10 months of age. There was no difference in ABR thresholds for click and tone burst stimuli between cho/+ and +/+ mice at all ages. In contrast to the conclusion of a previous report, our results indicate that Col11a1 haploinsufficiency does not cause significant hearing loss on the C57BL/6 strain background. We conclude that Stickler syndrome and Marshall syndrome mutations in COL11A1 cause hearing loss via dominant negative effects upon wild-type fibrillar collagen polypeptides in the extracellular matrices of the cochlea.
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Authors | Yvonne M Szymko-Bennett, Kiyoto Kurima, Bjorn Olsen, Robert Seegmiller, Andrew J Griffith |
Journal | Hearing research
(Hear Res)
Vol. 175
Issue 1-2
Pg. 178-82
(Jan 2003)
ISSN: 0378-5955 [Print] Netherlands |
PMID | 12527136
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Copyright | Copyright 2002 Elsevier Science B.V. |
Chemical References |
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Topics |
- Acoustic Stimulation
- Animals
- Auditory Threshold
- Collagen Type XI
(genetics)
- Evoked Potentials, Auditory, Brain Stem
- Hearing
- Mice
- Mice, Inbred C57BL
- Osteochondrodysplasias
(genetics, physiopathology)
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