Document Detail


Hearing Dysfunction in Heterozygous Mitf(Mi-wh) /+ Mice, a Model for Waardenburg Syndrome Type 2 and Tietz Syndrome.
MedLine Citation:
PMID:  23020089     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
The human deafness-pigmentation syndromes Waardenburg syndrome type 2a and Tietz syndrome are characterized by profound deafness but only partial cutaneous pigmentary abnormalities. Both syndromes are caused by mutations in MITF. To illuminate differences between cutaneous and otic melanocytes in these syndromes, their development and survival in heterozygous Microphthalmia-White (Mitf(Mi-wh) /+) mice were studied and hearing function of these mice characterized. Mitf(Mi-wh) /+ mice have a profound hearing deficit, characterized by elevated auditory brainstem response (ABR) thresholds, reduced distortion product otoacoustic emissions, absent endocochlear potential, loss of outer hair cells, and stria vascularis abnormalities. Mitf(Mi-wh) /+ embryos have fewer melanoblasts during embryonic development than their wild-type littermates. Although cochlear melanocytes are present at birth, they disappear from the Mitf(Mi-wh) /+ cochlea between P1 and P7. These findings may provide insight into the mechanism of melanocyte and hearing loss in human deafness-pigmentation syndromes such as Waardenburg syndrome and Tietz syndrome, and illustrate differences between otic and follicular melanocytes. © 2012 John Wiley & Sons A/S.
Authors:
Christina Ni; Deming Zhang; Lisa A Beyer; Karin E Halsey; Hideto Fukui; Yehoash Raphael; David F Dolan; Thomas J Hornyak
Related Documents :
23306349 - Evaluation of hearing in patients with familial mediterranean fever.
21119949 - Locked-in syndrome in a nigerian male with multiple sclerosis: a case report and litera...
24448289 - Vestibular dysfunction in turner syndrome: a case report.
24987409 - Presumptive thrombotic thrombocytopenic purpura following a hump-nosed viper (hypnale h...
24086419 - Analysis of the ush2a gene in medaka fish (oryzias latipes).
23778189 - Complete maxillo-mandibular syngnathia in a newborn with multiple congenital malformati...
11720799 - Neurological presentation of three patients with 22q11 deletion (catch 22 syndrome).
23268979 - A case of fisher syndrome with multiple cranial neuropathy and abnormal eeg findings.
16081159 - Anti-gq1b-negative miller-fisher syndrome with lower cranial nerve involvement from par...
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-10-1
Journal Detail:
Title:  Pigment cell & melanoma research     Volume:  -     ISSN:  1755-148X     ISO Abbreviation:  Pigment Cell Melanoma Res     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-1     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101318927     Medline TA:  Pigment Cell Melanoma Res     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2012 John Wiley & Sons A/S.
Affiliation:
Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, 20982, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  A chloroplast-derived Toxoplasma gondii GRA4 antigen used as an oral vaccine protects against toxopl...
Next Document:  TRANSMISSION, HOST SPECIFICITY, AND SEASONAL OCCURRENCE OF CYRTOSOMUM PENNERI (NEMATODA: ATRACTIDAE)...