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【科學新聞】臺灣跨領域醫學研究團隊創新成果 提供治療漢丁頓舞蹈症的新目標

Written By: admin on 四月 12, 2011 5 Comments
作者:美寶人文科技 現職:簡訊網科技臺灣編輯單位
[生醫] 臺灣跨領域醫學研究團隊創新成果 提供治療漢丁頓舞蹈症的新目標《中研院新聞稿》(2011/03/22)

臺灣一組跨領域醫學研究團隊創新發現,漢丁頓舞蹈症(Huntington’s disease)病患有早發性的聽力障礙,同時利用肌酸(Creatine)可以成功改善病患小鼠的聽損程度。這是漢丁頓舞蹈症造成聽力障礙的第一篇正式報告,未來將可提供醫學界新治療標的。論文已於2011年3月14日發表在國際重要期刊《臨床醫學研究期刊(Journal of Clinical Investigation)》。漢丁頓舞蹈症為一種罕見的遺傳性神經退化性疾病,致病原因在於漢丁頓基因(Huntingtin)中三核苷酸重複序列(CAG repeat)的數目異常增多。大多數患者在青年至中年時期發病,開始時肢體會不由自主地抖動,動作漸行嚴重,最終影響行動能力及大腦認知能力,目前尚無有效的治療方法。

這篇由中研院生物醫學科學研究所、國立陽明大學神經科學研究所分子醫學學程、三軍總醫院、林口長庚醫院以及台北榮民總醫院所發表的論文指出,漢丁頓舞蹈症病患出現聽力障礙的比例及嚴重程度都較常人為高,高頻段的聽力喪失尤其嚴重。研究團隊在兩種實驗小鼠模型中,證明此聽力障礙和耳蝸內的腦型肌酸激酶(creatine kinase B)的含量降低有關。研究團隊利用兩種不同的漢丁頓舞蹈症小鼠模型證實,突變的漢丁頓蛋白確實可在疾病小鼠的耳蝸中表現並降低腦型肌酸激酶的表達量,導致耳蝸毛細胞中的能量下降,粒線體的數目變少,能量代謝上的缺失,使得聽覺接受器官無法順利傳遞聲音的訊號。


論文標題為:〈Dysregulated brain creatine kinase is associated with hearing impairment in mouse models of Huntington disease〉。全文請參閱期刊網站:http://www.the-jci.org/publiTron.php?series_id=71&action=review_series

(Tel) 886-2-2652-3913 (Fax) 886-2-2782-9143

中研院新聞稿 2011/03/22

[BioMedicine] Taiwan Biomedical Researchers Show Hearing Impairment Is Authentic Symptom of Huntington’s Disease (Chinese Version)

Academia Sinica Newsletter (2011/03/22) A team of biomedical scientists from Academia Sinica, National Yang-Ming University, Tri-Service General Hospital, Chang Gung Memorial Hospital, and the Veterans General Hospital recently reported that hearing loss is an authentic symptom of Huntington’s disease (HD). In addition, the team found that brain-type creatine kinase ( CKB ), an enzyme important in supplying energy to cells, was reduced in the cochlea in the inner ear of mice with HD. Most importantly, treatment with creatine supplements ameliorated the hearing impairment of HD mice, hinting that creatine may be an effective treatment for hearing problems in HD patients. The study was published in theJournal of Clinical Investigation on March 14, 2011.

Huntington’s disease (HD) is a neurodegenerative disorder that usually becomes established in middle age. Clinical features of HD include uncontrollable writhing movements known as chorea, cognitive impairment, and psychiatric syndromes. HD is caused by an autosomal dominant mutation on either of an individual’s two copies of a gene called Huntingtin, which means that any child of parent with HD has a 50% risk of inheriting the disease. The worldwide prevalence of this disorder is estimated to be 5-10 cases per 100000 people.

In the study led by Dr. Yijuang CHERN, a Research Fellow at the Institute of Biomedical Sciences, Academia Sinica, and Dr. Chih-Hung WANG, a clinician of Tri-Service General Hospital, 19 HD patients (aged 40–59) were assessed for hearing loss using pure-tone audiometry (PTA) and auditory brainstem responses (ABR). Hearing loss was found to be considerably greater in HD patients. Two mouse models of HD also showed hearing loss when tested in the same way as humans, leading researchers to conclude that hearing loss is an authentic symptom of HD.

Analyses showed that mutant huntingtin (Htt) was present in the organ of Corti (the spiral organ of the inner ear) of HD mice, which might interfere with its normal functioning. Further analyses revealed reduced expression of the enzyme CKB in the cochlea of HD mice. Treatment with creatine supplements improved the hearing impairment of HD mice, suggesting that creatine may be useful for treatment of hearing abnormalities in HD patients.

The full-text of the study entitled “Dysregulated brain creatine kinase is associated with hearing impairment in mouse models of Huntington disease” is available at the?Journal of Clinical Investigation website at:?http://www.the-jci.org/publiTron.php?series_id=71&action=review_series

Media Contacts:
Dr. Yijuang CHERN, Institute of Biomedical Sciences, Academia Sinica
(Tel) 886-2-2652-39, (Fax) 886-2-2782-9143,?bmychern@ibms.sinica.edu.tw

Further Information:
Academia Sinica Newsletter 2011/03/22



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