Hearing Impairment: A Panoply of Genes and Functions

被引：119

作者：

Dror, Amiel A. ^{[1
]}

Avraham, Karen B. ^{[1
]}

机构：

[1] Tel Aviv Univ, Sackler Fac Med, Dept Human Mol Genet & Biochem, IL-69978 Tel Aviv, Israel

来源：

NEURON | 2010年 / 68卷 / 02期

基金：

以色列科学基金会;

关键词：

HAIR CELL REGENERATION; TIGHT-JUNCTION PROTEIN; INNER-EAR; AUDITORY NEUROPATHY; PENDRED-SYNDROME; TRANSCRIPTION FACTOR; STRIA VASCULARIS; POU-DOMAIN; COCHLEAR IMPLANTATION; DEPENDENT EXOCYTOSIS;

D O I：

10.1016/j.neuron.2010.10.011

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Research in the genetics of hearing and deafness has evolved rapidly over the past years, providing the molecular foundation for different aspects of the mechanism of hearing. Considered to be the most common sensory disorder, hearing impairment is genetically heterogeneous. The multitude of genes affected encode proteins associated with many different functions, encompassing overarching areas of research. These include, but are not limited to, developmental biology, cell biology, physiology, and neurobiology. In this review, we discuss the broad categories of genes involved in hearing and deafness. Particular attention is paid to a subgroup of genes associated with inner ear gene regulation, fluid homeostasis, junctional complex and tight junctions, synaptic transmission, and auditory pathways. Overall, studies in genetics have provided research scientists and clinicians with insight regarding practical implications for the hearing impaired, while heralding hope for future development of therapeutics.

引用

页码：293 / 308

页数：16

共 137 条

[1]

Achanzar WE, 1997, J CELL SCI, V110, P1073

[2] PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23 [J].

Ahmed, ZM ;

Riazuddin, S ;

Ahmad, J ;

Bernstein, SL ;

Guo, Y ;

Sabar, MF ;

Sieving, P ;

Riazuddin, S ;

Griffith, AJ ;

Friedman, TB ;

Belyantseva, IA ;

Wilcox, ER .

HUMAN MOLECULAR GENETICS, 2003, 12 (24) :3215-3223

[3]

[Anonymous], 1992, MAMMALIAN AUDITORY P

[4] ANTI-APOPTOTIC FACTOR z-Val-Ala-Asp-FLUOROMETHYLKETONE PROMOTES THE SURVIVAL OF COCHLEAR HAIR CELLS IN A MOUSE MODEL FOR HUMAN DEAFNESS [J].

Atar, O. ;

Avraham, K. B. .

NEUROSCIENCE, 2010, 168 (03) :851-857

[5]

Balda MS, 2000, J CELL BIOCHEM, V78, P85, DOI 10.1002/(SICI)1097-4644(20000701)78:1<85::AID-JCB8>3.0.CO

[6]

2-F

[7] A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness [J].

Bardien, Soraya ;

Human, Hannique ;

Harris, Tashneem ;

Hefke, Gwynneth ;

Veikondis, Rene ;

Schaaf, H. Simon ;

van der Merwe, Lize ;

Greinwald, John H. ;

Fagan, Johan ;

de Jong, Greetje .

BMC MEDICAL GENETICS, 2009, 10

[8] MicroRNAs: Target Recognition and Regulatory Functions [J].

Bartel, David P. .

CELL, 2009, 136 (02) :215-233

[9] A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B [J].

Bashir, R ;

Britton, S ;

Strachan, T ;

Keers, S ;

Vafiadaki, E ;

Lako, M ;

Richard, I ;

Marchand, S ;

Bourg, N ;

Argov, Z ;

Sadeh, M ;

Mahjneh, I ;

Marconi, G ;

Passos-Bueno, MR ;

Moreira, ED ;

Zatz, M ;

Beckmann, JS ;

Bushby, K .

NATURE GENETICS, 1998, 20 (01) :37-42

[10] Calcium- and otoferlin-dependent exocytosis by immature outer hair cells [J].

Beurg, Maryline ;

Safieddine, Saaid ;

Roux, Isabelle ;

Bouleau, Yohan ;

Petit, Christine ;

Dulon, Didier .

JOURNAL OF NEUROSCIENCE, 2008, 28 (08) :1798-1803

← 1 2 3 4 5 6 7 8 9 10 →