The molecular genetics of inherited deafness – current knowledge and recent advances

Hardisty, Rachel E.; Fleming, Jane; Steel, Karen P.

doi:10.1017/s002221510014071x

Cited by 12 publications

(6 citation statements)

References 53 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The relationship between skin melanocyte defect and strial degeneration is clear in some mouse models with a cochleosaccular type of deafness. The defect results from a failure in melanoblast migration or survival, and several implicated genes have now been identified in this species (Cable et al, 1992; Hardisty et al, 1998). Recently, mutated genes have been identified in human Waardenburg syndromes causing cochleosaccular deafness associated with pigment defects (Hardisty et al, 1998, Steel, 1999).…”

Section: Discussionmentioning

confidence: 99%

“…In this defect, the cochlear duct is collapsed, the stria vascularis and organ of Corti are degenerated, the tectorial membrane is abnormal, and the sacculus is usually collapsed. This type of deafness is reported in several mammalian species, including dogs and humans (Steel and Bock, 1983; Steel and Harvey, 1992; Schucknecht, 1993; Strain, 1996; Hardisty et al, 1998). In humans, the best documented cochleosaccular entities are the Waardenburg's syndromes (Cable et al, 1994; Hardisty et al, 1998), which are associated with pigmentation defects, as in dogs.…”

mentioning

confidence: 84%

“…This type of deafness is reported in several mammalian species, including dogs and humans (Steel and Bock, 1983; Steel and Harvey, 1992; Schucknecht, 1993; Strain, 1996; Hardisty et al, 1998). In humans, the best documented cochleosaccular entities are the Waardenburg's syndromes (Cable et al, 1994; Hardisty et al, 1998), which are associated with pigmentation defects, as in dogs. In Jervell and Lange‐Nielsen syndrome (in humans), cochleosaccular degeneration is associated with cardiac anomalies (Hardisty et al, 1998).…”

mentioning

confidence: 84%

“…In humans, the best documented cochleosaccular entities are the Waardenburg's syndromes (Cable et al, 1994; Hardisty et al, 1998), which are associated with pigmentation defects, as in dogs. In Jervell and Lange‐Nielsen syndrome (in humans), cochleosaccular degeneration is associated with cardiac anomalies (Hardisty et al, 1998). Cochleosaccular degeneration may also be observed in nonsyndromic hearing impairment (Lalwany et al, 1997; Steel, 1999).…”

mentioning

confidence: 99%

See 3 more Smart Citations

Postnatal maturation of the dog stria vascularis— an immunohistochemical study

et al. 2002

View full text Add to dashboard Cite

The lateral wall of the dog cochlear duct was investigated by classical staining and immunohistochemistry for NaK/ATPase ␤2 isoform, cytokeratins (Cks), vimentin, nestin, and S100A6 during the postnatal cochlear maturation, i.e., from birth to postnatal day 110. The dog stria vascularis was immature at birth. Fine melanin granules were evident in the stria from the second week of life, and melanin concentration increased drastically beyond the first month. The marginal cells were NaK/ATPase-and Ck-positive; intermediate cells were either nestin-and S100A6-positive or vimentin-positive; the basal cells were vimentin-positive; the capillary endothelium showed vimentin and nestin labeling; the cell layer underlying the stria was nestin-positive. The fibrocytes of the spiral ligament and spiral prominence expressed nestin and vimentin. The epithelial cells overlaying the spiral prominence and the external sulcus were Ck-positive, and transiently nestin-and vimentin-positive. Double immunolabeling, for S100A6 and either nestin, vimentin, or NaK/ATPase, and for nestin and vimentin suggested the presence of two distinct intermediate cell types. The results enabled us to differentiate the cell types forming the lateral wall of the dog cochlear duct, and to follow their postnatal maturation. This study may form a basis for future investigations about spontaneous cochleosaccular degeneration in dogs. This species is an important companion animal, and a possible model for the study of comparable diseases in humans. Anat Rec Part A 270A: 82-92, 2003.

show abstract

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 84%

mentioning

confidence: 84%

mentioning

confidence: 99%

See 2 more Smart Citations

Postnatal maturation of the dog stria vascularis— an immunohistochemical study

et al. 2002

View full text Add to dashboard Cite

show abstract

“…The deaf dogs described in this study might be a readily available possible animal model for studying autosomal recessive deafness in childhood that represent 85% of the non-syndromic cases (Lalwani et al, 1997;Hardisty et al, 1998). …”

Section: Discussionmentioning

confidence: 99%

Inner ear histopathology in “nervous Pointer dogs” with severe hearing loss

Coppens¹,

Gilbert-Gregory

Steinberg

et al. 2005

Hearing Research

View full text Add to dashboard Cite

Aminoglycoside antibiotics

2006

Meyler's Side Effects of Drugs: The International Encyclopedia of Adverse Drug Reactions and Interactions

View full text Add to dashboard Cite

Infections caused by the rapidly growing mycobacterium (RGM) Mycobacterium abscessus are notoriously difficult to treat due to the innate resistance of M. abscessus to most clinically available antimicrobials. Aminoglycoside antibiotics (AGA) are a cornerstone of antimicrobial chemotherapy against M. abscessus infections, although little is known about intrinsic drug resistance mechanisms. We investigated the role of chromosomally encoded putative aminoglycoside-modifying enzymes (AME) in AGA susceptibility in M. abscessus. Methods: Clinical isolates of M. abscessus were tested for susceptibility to a series of AGA with different substituents at positions 2 ′ , 3 ′ and 4 ′ of ring 1 in MIC assays. Cell-free extracts of M. abscessus type strain ATCC 19977 and Mycobacterium smegmatis strains SZ380 [aac(2 ′)-Id + ], EP10 [aac(2 ′)-Id 2 ] and SZ461 [aac(2 ′)-Id + , rrs A1408G] were investigated for AGA acetylation activity using thin-layer chromatography (TLC). Cell-free ribosome translation assays were performed to directly study drug-target interaction. Results: Cell-free translation assays demonstrated that ribosomes of M. abscessus and M. smegmatis show comparable susceptibility to all tested AGA. MIC assays for M. abscessus and M. smegmatis, however, consistently showed the lowest MIC values for 2 ′-hydroxy-AGA as compared with 2 ′-amino-AGA, indicating that an aminoglycoside-2 ′-acetyltransferase, Aac(2 ′), contributes to innate AGA susceptibility. TLC experiments confirmed enzymatic activity consistent with Aac(2 ′). Using M. smegmatis as a model for RGM, acetyltransferase activity was shown to be up-regulated in response to AGA-induced inhibition of protein synthesis. Conclusions: Our findings point to AME as important determinants of AGA susceptibility in M. abscessus.

show abstract

The molecular genetics of inherited deafness – current knowledge and recent advances

Cited by 12 publications

References 53 publications

Postnatal maturation of the dog stria vascularis— an immunohistochemical study

Postnatal maturation of the dog stria vascularis— an immunohistochemical study

Inner ear histopathology in “nervous Pointer dogs” with severe hearing loss

Aminoglycoside antibiotics

Contact Info

Product

Resources

About