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    
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.
Christina Ni; Deming Zhang; Lisa A Beyer; Karin E Halsey; Hideto Fukui; Yehoash Raphael; David F Dolan; Thomas J Hornyak
Related Documents :
24768309 - Susac's syndrome during pregnancy - the first croatian case.
23778189 - Complete maxillo-mandibular syngnathia in a newborn with multiple congenital malformati...
23761609 - Rachitic chest in a young adult male: fanconi's syndrome--idiopathic type.
20167009 - Fatal case of reye's syndrome associated with h3n2 influenza virus infection and salicy...
21226389 - Case report: hyperbaric oxygen in the treatment of puff adder (bitis arietans) bite.
23020089 - Hearing dysfunction in heterozygous mitf(mi-wh) /+ mice, a model for waardenburg syndro...
11530809 - Waldenström's macroglobulinemia associated with aa amyloidosis.
25126049 - Pathomechanisms in coenzyme q10-deficient human fibroblasts.
25300589 - Miller fisher syndrome with presynaptic neuromuscular transmission disorder.
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.
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

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...