Comparative Biochemical Study of Otosclerosis and Osteogenesis Imperfecta

Holdsworth, Charles E.; Endahl, Gerald L.; Soifer, Nathaniel; Richardson, K.E.; Eyring, Edward J.

doi:10.1001/archotol.1973.00780020348014

Cited by 32 publications

(14 citation statements)

References 16 publications

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“…It has been noted that in some respects the features of hearing loss in OI such as ossicular involvement and hearing loss progression mimic those found in otosclerosis [21]. However, OI and otosclerosis are biochemically divergent [34]. Examination of histopathological data has shown that OI is a generalized disorder of the bone and connective tissue, whereas otosclerosis is a localized disease of the temporal bone [32].…”

Section: Hearing Loss In Osteogenesis Imperfectamentioning

confidence: 99%

Hearing Loss in Osteogenesis Imperfecta: Characteristics and Treatment Considerations

Pillion

Vernick

Shapiro

2011

Genetics Research International

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Osteogenesis imperfecta (OI) is the most common heritable disorder of connective tissue. It is associated with fractures following relatively minor injury, blue sclerae, dentinogenesis imperfecta, increased joint mobility, short stature, and hearing loss. Structures in the otic capsule and inner ear share in the histologic features common to other skeletal tissues. OI is due to mutations involving several genes, the most commonly involved are the COL1A1 or COL1A2 genes which are responsible for the synthesis of the proalpha-1 and proalpha-2 polypeptide chains that form the type I collagen triple helix. A genotype/phenotype relationship to hearing loss has not been established in OI. Hearing loss is commonly found in OI with prevalence rates ranging from 50 to 92% in some studies. Hearing loss in OI may be conductive, mixed, or sensorineural and is more common by the second or third decade. Treatment options such as hearing aids, stapes surgery, and cochlear implants are discussed.

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Section: Hearing Loss In Osteogenesis Imperfectamentioning

confidence: 99%

Hearing Loss in Osteogenesis Imperfecta: Characteristics and Treatment Considerations

Pillion

Vernick

Shapiro

2011

Genetics Research International

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“…Type I OI affects the entire skeleton, whereas otosclerosis occurs only within the temporal bones of humans [Wang et al, 1999]. Compared with otosclerosis, hearing loss in type I OI tends to have an earlier onset, more diffuse otic capsule involvement and a higher incidence of sensorineural hearing loss [Holdsworth et al, 1973;Shapiro et al, 1982;Kuurila et al, 2002]. The majority of cases of type I OI are due to mutations in the COL1A1 gene that result in null expression of the mutant allele, whereas we have shown that only a fraction of patients with otosclerosis have a similar single allele reduction in COL1A1 expression [McKenna et al, 1998;McKenna et al, 2002].…”

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confidence: 99%

Studies of Otic Capsule Morphology and Gene Expression in the Mov13 Mouse – An Animal Model of Type I Osteogenesis Imperfecta

Stanković

Kristiansen²,

Bizaki³

et al. 2007

Audiol Neurotol

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Type I osteogenesis imperfecta (OI) is a disorder of skeletal bones characterized by bone fragility and blue sclera, which can result from mutations in genes encoding for type I collagen – the COL1A1 and COL1A2 genes. Fifty percent of patients with type I OI develop hearing loss and associated histopathological changes in the otic capsule that are indistinguishable from otosclerosis, a major cause of acquired hearing loss. In an attempt to elucidate molecular and cellular mechanisms of hearing loss in type I OI, we have studied the Mov13 mouse, which has served as an animal model of type I OI by virtue of exhibiting variable transcriptional block of the COL1A1 gene. We studied the morphometry of the Mov13 otic capsule and compared expression levels of 60 genes in the otic capsule with those in the tibia and parietal bone of the Mov13 and wild-type mice. The degree of transcriptional block of the COL1A1 gene and its downstream effects differed significantly between the bones examined. We found that expression levels of bone morphogenetic protein 3 and nuclear factor ĸ-B1 best distinguished Mov13 otic capsule from wild-type otic capsule, and that osteoprotegerin, caspase recruitment domain containing protein 1, and partitioning defective protein 3 best distinguished Mov13 otic capsule from Mov13 tibia and parietal bone. Although the Mov13 mouse did not demonstrate evidence of active abnormal otic capsule remodeling as seen in type I OI and otosclerosis, studying gene expression in the Mov13 mouse has provided evidence that osteocytes of the otic capsule differ from osteocytes in other bones.

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“…Biochemical analysis of stapes sulfhydryl groups and various enzymes have clearly demonstrated different concentrations in both of these diseases (Arslan and Ricci 1963;Chevance 1964;Holdsworth et al 1973). In most cases, stapedial fixation is caused by a focal lesion in the footplate that histologically resembles the early active stage of otosclerosis.…”

Section: Histology Of Osteogenesis Imperfectamentioning

confidence: 99%