Biology Reference
In-Depth Information
5.6.3 Animal Models of Jervell and Lange-Nielsen Syndrome
Vetter et al. (1996) generated and characterized a knockout mutant of the
mouse gene encoding isk.
isk
-/- mice had an auditory phenotype closely
approximating that of JLNS, as well as the circling phenotype characteris-
tic of mice with vestibular labyrinthine abnormalities. Electrophysiologic
studies of the strial marginal cells and vestibular dark cells of
isk
-/- mice
confirmed a lack of transepithelial potassium secretion. The
isk
-/- mouse
strain should be useful for further investigations of endolymphatic ion
homeostasis, as well as the pathophysiology associated with disruptions of
this process such as that observed in JLNS (Vetter et al. 1996).
6. Conclusion
Our conceptual thinking about hearing is confined, in part, by the “deaf-
ness” genes that have and have not identified. The proper development of
the auditory system and its associated electromechanical processes requires
the orchestrated temporal and spatial expression of numerous different
genes. Further characterization of the genes for hearing loss will provide a
clearer vision of the structure and function of the auditory system in health
and disease. It is hoped that these discoveries will establish a conceptual
basis for the rational therapy of hearing loss and deafness.
Acknowledgments.
We thank Drs. James F. Battey, Lorraine A. Everett,
Penelope L. Friedman, Jeff Hung Kim, Robert J. Morell and Edward R.
Wilcox for helpful comments. This work was supported by National Insti-
tute on Deafness and other Communication Disorders intramural funds
Z01 DC 00035-02, Z01 DC 00039-02, Z01 DC 00040-02 and Z01 DC 00048-
01 to T.B.F., and Z01 DC 00054-01 and Z01 DC 00055-01 to A.J.G.
Abbreviations
ABR
Auditory brainstem response
BAC
Bacterial artificial chromosome
bp
base pairs
BOR
Branchio-oto-renal syndrome
CHL
Conductive hearing loss
cM
CentiMorgan
CT
Computed tomography
dBHL
Decibels hearing loss
DMD
Duchenne muscular dystrophy
DPOAE
Distortion product otoacoustic emissions
