Evidence of Abnormal Stromelysin mRNA Expression in Suspected Carriers of Otosclerosis: A Possible Molecular Marker

McPhee, Joseph R.; Gordon, Michael A.; Ruben, Robert J.; Water, Thomas R. Van De

doi:10.1001/archotol.1993.01880220052008

Cited by 5 publications

(4 citation statements)

References 11 publications

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“…It is generally believed that otosclerosis is dominantly inherited with variable penetrance (Larsson, 1962;Morrison, 1967). It is also well established that clinical symptoms of the disorder set predominantly, between 15 to 40 years of age, with higher prevalence in women than men (James, 1989(James, , 1991McPhee et al, 1993). Although this is the general outcome of most studies, heterogeneity with respect to mode of inheritance, degree of penetrance and age at onset is also reported in the literature.…”

Section: Introductionmentioning

confidence: 99%

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Genetics of otosclerosis

Sabitha

Ramalingam

et al. 1997

J. Laryngol. Otol.

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Otosclerosis is an early-middle adult life genetic disease affecting bone remodelling in the ear. Current knowledge of otosclerosis as an inherited disease dates to the mid-19th century, and we report here an attempt to understand the genetics of otosclerosis and detect its heterogeneity. The analysis was conducted on 151 otosclerotic families. The results of our study indicate that while heredity plays an important role in the manifestation of the disease a substantial portion of otosclerotic cases could arise due to non-genetic causes.

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Section: Introductionmentioning

confidence: 99%

“…Otosclerosis causes progressive hearing impairment in early and middle adult life (McPhee et al, 1993). The ICMR study conducted in 1983 showed that 10 per cent of people in India suffer hearing impairment i.e.…”

Section: Introductionmentioning

confidence: 99%

Genetics of otosclerosis

Sabitha

Ramalingam

et al. 1997

J. Laryngol. Otol.

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“…Etiology of the disease is still unknown and many theories have been proposed. Possible causative factors could be heredity, metabolic disorders, vascular defects, viral and fungal infections, trauma and histologic abnormalities of the otic capsule [3,15,19,26,27,321. Thalmann et al [38] suggested that otosclerosis represents a local manifestation of a clinically and functionally heterogeneous group of generaIised connective tissue disorders.…”

Section: Introductionmentioning

confidence: 99%

Glycosaminoglycan metabolism in otosclerotic bone cells

Locci

Becchetti

Venti

et al. 1996

Biology of the Cell

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Normal and otosclerotic bone cells were cultured in vitro in serum-free medium to evaluate single glycosaminoglycan (GAG) class synthesis and secretion. Moreover, the degradative process was studied by inhibiting the lysosomal functions through the addition of ammonium chloride to the cultures, an ammine known to inhibit lysosomal degradation by neutralizing organelle activity. Otosclerotic bone cells accumulated a lower amount of GAG both in the cellular and extracellular pool compared to normal ones. The decrease was markedly higher for secreted GAG. Moreover a different pattern of single GAG class distribution was observed in the two cell types considered. In the medium of otosclerotic cells a percentage increase of hyaluronic acid (HA) and dermatan sulphate (DS) and a percentage decrease of heparan sulfate (HS) and chondroitin sulfate (CS) were observed compared to normal bone cells. Ammonium chloride had a lower effect on pathologic than on normal cells, indicating a decrease in the degradative process in otosclerotic bone cells. These results were also confirmed by the experiments on GAG uptake and degradation and by the dosage of enzymatic activity of two exoglycosidases. Since extracellular GAG composition influences bone deposition and mineralization, these data support the hypothesis that otosclerosis is the result of an error in the connective tissue matrix structure.

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“…Eine Reihe von pathologischen Vorgängen wurde in der Vergangenheit als potenzielle Ursachen einer Otosklerose diskutiert. Die Otosklerose wurde u. a. als Infektionsfolge nach einer Masernerkrankung[22], einer abnormalen Zellreaktion auf Parathormon[23], aber auch einer abnormalen Stromelysin-Expression[24] diskutiert. Jüngste Ergebnisse weisen eher auf einen hereditären Defekt hin[25].…”

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