Thyroxine treatments do not correct inner ear defects in tmprss1 mutant mice

被引：5

作者：

Hanifa, Syazana ^{[1
,2
]}

Scott, Hamish S. ^{[4
,5
,6
]}

Crewther, Pauline ^{[3
]}

Guipponi, Michel ^{[7
,8
]}

Tan, Justin ^{[1
,2
]}

机构：

[1] Bion Ear Inst, Melbourne, Vic 3002, Australia

[2] Univ Melbourne, Dept Otolaryngol, Melbourne, Vic, Australia

[3] Walter Eliza Hall Inst Med Res, Div Struct Biol, Parkville, Vic, Australia

[4] Inst Med & Vet Sci, Dept Mol Pathol, Adelaide, SA 5000, Australia

[5] Univ Adelaide, Sch Med, Adelaide, SA, Australia

[6] Ctr Canc Biol, Adelaide, SA, Australia

[7] Univ Geneva, Sch Med, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

[8] Univ Hosp Geneva, Geneva, Switzerland

来源：

NEUROREPORT | 2010年 / 21卷 / 13期

基金：

英国医学研究理事会; 瑞士国家科学基金会;

关键词：

cochlea; hepsin; hypothyroidism; resistance to thyroid hormones; tectorial membrane; thyroid hormones; transmembrane serine protease; TRANSMEMBRANE SERINE-PROTEASE; AUTOSOMAL RECESSIVE DEAFNESS; HEARING-LOSS; THYROID-HORMONE; BETA GENE; EXPRESSION; RESISTANCE; DEFICIENT; MUTATIONS; FAMILIES;

D O I：

10.1097/WNR.0b013e32833dbd2d

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Complete deficiency of a member of the type II transmembrane serine protease family, tmprss1 (also known as hepsin), is associated with severe to profound hearing loss in mice and a gross enlargement of the tectorial membrane in the cochlea. Levels of thyroxine in these mice have been shown to be significantly lower when compared with wild-type controls. As thyroxine is critical for inner ear development, we delivered thyroxine to these mice during the prenatal or postnatal stage of development. Both the treatments could not ameliorate hearing loss or correct deformities in the tectorial membrane of these mutant mice, suggesting that a deficiency in tmprss1 affects thyroxine responsiveness in the inner ear in vivo. NeuroReport 21: 897-901 (C) 2010 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.

引用

页码：897 / 901

页数：5

共 17 条

[1] Hearing loss in athyroid Pax8 knockout mice and effects of thyroxine substitution [J].

Christ, S ;

Biebel, UW ;

Hoidis, S ;

Friedrichsen, S ;

Bauer, K ;

Smolders, JWT .

AUDIOLOGY AND NEURO-OTOLOGY, 2004, 9 (02) :88-106

[2] The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro [J].

Guipponi, M ;

Vuagniaux, G ;

Wattenhofer, M ;

Shibuya, K ;

Vazquez, M ;

Dougherty, L ;

Scamuffa, N ;

Guida, E ;

Okui, M ;

Rossier, C ;

Hancock, M ;

Buchet, K ;

Reymond, A ;

Hummler, E ;

Marzella, PL ;

Kudoh, J ;

Shimizu, N ;

Scott, HS ;

Antonarakis, SE ;

Rossier, BC .

HUMAN MOLECULAR GENETICS, 2002, 11 (23) :2829-2836

[3] Mice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss [J].

Guipponi, Michel ;

Tan, Justin ;

Cannon, Ping Z. F. ;

Donley, Lauren ;

Crewther, Pauline ;

Clarke, Maria ;

Wu, Qingyu ;

Shepherd, Robert K. ;

Scott, Hamish S. .

AMERICAN JOURNAL OF PATHOLOGY, 2007, 171 (02) :608-616

[4]

Knipper M, 1998, DEVELOPMENT, V125, P3709

[5] A targeted deletion in α-tectorin reveals that the tectorial membrane is required for the gain and timing of cochlear feedback [J].

Legan, PK ;

Lukashkina, VA ;

Goodyear, RJ ;

Kössl, M ;

Russell, IJ ;

Richardson, GP .

NEURON, 2000, 28 (01) :273-285

[6] Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness [J].

Masmoudi, S ;

Antonarakis, SE ;

Schwede, T ;

Ghorbel, AM ;

Gratri, M ;

Pappasavas, MP ;

Drira, M ;

Elgaied-Boutila, A ;

Wattenhofer, M ;

Rossier, C ;

Scott, HS ;

Ayadi, H ;

Guipponi, M .

HUMAN MUTATION, 2001, 18 (02) :101-108

[7] Hearing loss and retarded cochlear development in mice lacking type 2 iodothyronine deiodinase [J].

Ng, L ;

Goodyear, RJ ;

Woods, CA ;

Schneider, MJ ;

Diamond, E ;

Richardson, GP ;

Kelley, MW ;

St Germain, DL ;

Galton, VA ;

Forrest, D .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2004, 101 (10) :3474-3479

[8] HEARING-LOSS AND COCHLEAR ABNORMALITIES IN THE CONGENITAL HYPOTHYROID (HYT/HYT) MOUSE [J].

OMALLEY, BW ;

LI, DQ ;

TURNER, DS .

HEARING RESEARCH, 1995, 88 (1-2) :181-189

[9] Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor β gene [J].

Pohlenz, J ;

Weiss, RE ;

Macchia, PE ;

Pannain, S ;

Lau, IT ;

Ho, H ;

Refetoff, S .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1999, 84 (11) :3919-3928

[10] Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness [J].

Scott, HS ;

Kudoh, J ;

Wattenhofer, M ;

Shibuya, K ;

Berry, A ;

Chrast, R ;

Guipponi, M ;

Wang, J ;

Kawasaki, K ;

Asakawa, S ;

Minoshima, S ;

Younus, F ;

Mehdi, SQ ;

Radhakrishna, U ;

Papasavvas, MP ;

Gehrig, C ;

Rossier, C ;

Korostishevsky, M ;

Gal, A ;

Shimizu, N ;

Bonne-Tamir, B ;

Antonarakis, SE .

NATURE GENETICS, 2001, 27 (01) :59-63

← 1 2 →