Otosclerosis has an unequivocal hereditary predisposition although the exact nature of the genetic transmission has not been delineated. In some cases otosclerotic lesions are histologically identical to the otic capsule lesions observed in osteogenesis imperfecta. Some forms of osteogenesis imperfecta have been causatively linked to genetic defects in type I collagen. Genetic defects in milder forms of hereditary chondrodysplasias have been causatively linked to the gene for type II collagen. In this study we propose to evaluate the linkage between otosclerosis and type I and type II collagen gene restriction fragment length polymorphisms in affected family members with well-established otosclerosis. If these candidate genes are found not to be linked to clinical otosclerosis, attempts will be made to identify the otosclerotic gene locus or loci by linkage analysis to other gene segment markers. In addition experiments will be conducted to continue investigation of a possible defective measles virus presence in otosclerosis. These studies will focus on the use of polymerase chain reaction techniques to establish the presence of measles virus nucleic acids within affected temporal bone sections.

Agency
National Institute of Health (NIH)
Institute
National Institute on Deafness and Other Communication Disorders (NIDCD)
Type
Clinical Investigator Award (CIA) (K08)
Project #
5K08DC000065-04
Application #
2124343
Study Section
Communication Disorders Review Committee (CDRC)
Project Start
1992-01-01
Project End
1996-12-31
Budget Start
1995-01-01
Budget End
1995-12-31
Support Year
4
Fiscal Year
1995
Total Cost
Indirect Cost
Name
Massachusetts Eye and Ear Infirmary
Department
Type
DUNS #
073825945
City
Boston
State
MA
Country
United States
Zip Code
02114
McKenna, M J; Kristiansen, A G; Bartley, M L et al. (1998) Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta. Am J Otol 19:604-10
McKenna, M J (1997) Measles, mumps, and sensorineural hearing loss. Ann N Y Acad Sci 830:291-8
Lee, K H; McKenna, M J; Sewell, W F et al. (1997) Ribonucleases may limit recovery of ribonucleic acids from archival human temporal bones. Laryngoscope 107:1228-34
McKenna, M J; Kristiansen, A G; Haines, J (1996) Polymerase chain reaction amplification of a measles virus sequence from human temporal bone sections with active otosclerosis. Am J Otol 17:827-30