一項研究說,，科學(xué)家發(fā)現(xiàn)了一種基因突變可能導(dǎo)致一種稱為聽覺神經(jīng)病的罕見聽覺喪失,，而且有可能帶來這種疾病的一種遺傳測試。
聽覺神經(jīng)病是一種外耳功能正常,、但是到達內(nèi)耳的聲音不能正確地傳遞給大腦的疾病,。Marci Lesperance及其同事檢查了來自同一個大家族的受該病影響的人的DNA，結(jié)果發(fā)現(xiàn)了一種突變可能導(dǎo)致了DIAPH3基因過度制造一種稱為透明蛋白質(zhì)的化合物,。此前的研究已經(jīng)把聽力喪失與也調(diào)控著一種透明蛋白質(zhì)的一種相關(guān)基因聯(lián)系了起來,。為了調(diào)查這些化合物在聽覺功能中的作用，這組作者改造了一個果蠅品系,，讓它們在聽覺器官中表達出了透明蛋白的類似物,。利用聲音誘導(dǎo)產(chǎn)生了可測量的電壓變化,，這組科學(xué)家確定了被測果蠅的聽力比野生型對照組果蠅顯著衰退。
>>>第一屆腫瘤基礎(chǔ)和轉(zhuǎn)化醫(yī)學(xué)國際研討會"將于2010年10月12日在中國上海盛大開幕,，這將為廣大活躍在腫瘤基礎(chǔ)和轉(zhuǎn)化醫(yī)學(xué)第一線的科研工作者提供一個互動交流的平臺,。
會議官方網(wǎng)站：www.cancerasia.org
目前，診斷聽覺神經(jīng)病需要測試專門證實只有外耳的功能正常,。這組作者說,，一種遺傳測試可能導(dǎo)致更少的誤診。(生物谷Bioon.net)
AJHG：PRPS1基因突變可導(dǎo)致男性聽力喪失
Nature Neuroscience：知覺訓(xùn)練可修復(fù)大腦聽力功能損傷
成年失聰者學(xué)會新語言模式
PNAS：遺傳性重聽基因C-RET發(fā)現(xiàn)
生物谷推薦原文出處：
PNAS doi: 10.1073/pnas.1003027107
Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila
Cynthia J. Schoena,b, Sarah B. Emeryc, Marc C. Thornec, Hima R. Ammanad, El?bieta ?liwerskab, Jameson Arnettc, Michael Hortsche, Frances Hannand,f, Margit Burmeisterb,g,h, and Marci M. Lesperancec,1
aNeuroscience Graduate Program,
bMolecular & Behavioral Neuroscience Institute,
cDivision of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, and
Departments of eCell and Developmental Biology,
gHuman Genetics, and
hPsychiatry, University of Michigan Health System, Ann Arbor, MI 48109; and
Departments of dCell Biology and Anatomy and
fOtolaryngology, New York Medical College, Valhalla, NY 10595
Auditory neuropathy is a rare form of deafness characterized by an absent or abnormal auditory brainstem response with preservation of outer hair cell function. We have identified Diaphanous homolog 3 (DIAPH3) as the gene responsible for autosomal dominant nonsyndromic auditory neuropathy (AUNA1), which we previously mapped to chromosome 13q21-q24. Genotyping of additional family members narrowed the interval to an 11-Mb, 3.28-cM gene-poor region containing only four genes, including DIAPH3. DNA sequencing of DIAPH3 revealed a c.-172G > A, g. 48G > A mutation in a highly conserved region of the 5′ UTR. The c.-172G > A mutation occurs within a GC box sequence element and was not found in 379 controls. Using genome-wide expression arrays and quantitative RT-PCR, we demonstrate a 2- to 3-fold overexpression of DIAPH3 mRNA in lymphoblastoid cell lines from affected individuals. Likewise, a significant increase (≈1.5-fold) in DIAPH3 protein was found by quantitative immunoblotting of lysates from lymphoblastoid cell lines derived from affected individuals in comparison with controls. In addition, the c.-172G > A mutation is sufficient to drive overexpression of a luciferase reporter. Finally, the expression of a constitutively active form of diaphanous protein in the auditory organ of Drosophila melanogaster recapitulates the phenotype of impaired response to sound. To date, only two genes, the otoferlin gene OTOF and the pejvakin gene PJVK, are known to underlie nonsyndromic auditory neuropathy. Genetic testing for DIAPH3 may be useful for individuals with recessive as well as dominant inheritance of nonsyndromic auditory neuropathy.
