Analysis of telomere metabolism according to each chromosome in living patients with Werner syndrome using the FISH method

使用 FISH 方法分析活体维尔纳综合征患者各染色体的端粒代谢

• 批准号: 18590354
• 负责人: NAKAMURA Ken-ichi
• 金额: $ 2.57万
• 依托单位: Tokyo Metropolitan Institute of Gerontology
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2006
• 资助国家: 日本
• 起止时间: 2006 至 2007
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-18590354/
• 关键词: FISH; Telomere; Werner's syndrome; 染色体

We studied telomere metabolism and telomere length in fibroblasts from patients with Werner syndrome (WS) and normal control individuals by Q-FISH using metaphase spreads and tissue sections. We collected tissue samples from 7 cases of Werner syndrome Two of 9 tissue samples were obtained from the same patients on different dates. Primary cultured fibroblasts were also collected from 6 cases.1. Karyotype analysis was completed for fibroblasts from 6 cases of WS.2. A high frequency of translocation was associated with specific chromosomes.3. Mean telomere lengths for fibroblasts in 3 of the 6 WS cases were 10.1 kbp, 5.0 kbp, and 6.1 kbp, respectively.4. Telomere length of the chromosome bearing the WS gene was not significantly shorter than that for other chromosomes in 3 cases of WS.5. We measured telomere lengths of lymphocytes from patients with other progeria syndromes (Down's syndrome and 18 trisomy, n = 21) , and telomeres of trisomy chromosomes were not significantly shorter than those of other chromosomes.6. Telomere length measurement in the epidermis by Q-FISH method was prevented from obtaining constant date by cytoplasmic melanin and melanosomes. After digestion of melanin, we were able to obtain good results of telomere measurement.

我们用Q-FISH方法研究了Werner综合征（WS）患者和正常对照者成纤维细胞的端粒代谢和端粒长度。我们收集了7例维尔纳综合征的组织样本，其中9例组织样本中有2例来自同一患者，时间不同。收集了6例原代培养成纤维细胞。对6例WS.2的成纤维细胞进行核型分析。易位的高频率与特定的染色体有关。6例WS中3例成纤维细胞的平均端粒长度分别为10.1 kbp、5.0 kbp和6.1 kbp。3例WS基因携带染色体的端粒长度不明显短于其他染色体。我们测量了其他早衰综合征（唐氏综合征和18三体，n = 21）患者的淋巴细胞端粒长度，三体染色体的端粒没有明显短于其他染色体。Q-FISH法测定表皮端粒长度时，由于细胞质黑色素和黑素体的存在，无法获得恒定的数据。在消化黑色素后，我们能够获得很好的端粒测量结果。

项目成果

Squamous cell carcinomas of the esophagus arise from a telomere-shortened epithelial field.

食管鳞状细胞癌起源于端粒缩短的上皮区。

• 发表时间: 2007
• 期刊: Int J Mol Med. 20(6)
• 作者: Kammori M;Poon SS;Nakamura K;Izumiyama N;Ishikawa N;Kobayashi M;Naomoto Y;Takubo K.
• 通讯作者: Takubo K.

Telomere shortening with aging in the human pancreas

• DOI: 10.1016/j.exger.2006.06.036
• 发表时间: 2006-09-01
• 期刊: EXPERIMENTAL GERONTOLOGY
• 影响因子: 3.9
• 作者: Ishii, Akio;Nakamura, Ken-Ichi;Takubo, Kaiyo
• 通讯作者: Takubo, Kaiyo

食道の扁平上皮癌はテロメア短縮領域から発生する

食管鳞状细胞癌源自端粒缩短区域

• 发表时间: 2007
• 作者: Joh K;Taguchi T;Shigematsu H;Kobayashi Y;Sato H;Nishi S;Katafuchi R;Nomura S;Fujigaki Y;Utsunomiya Y;Sugiyama H;Saito T;Makino H;仲村賢一;笠原一郎;仲村賢一
• 通讯作者: 仲村賢一

Specific subtelomere loss on chromosome der (11) t(3 ; 11) (q23 ; q23) x2 in anaplastic thyroid cancer cell line OCUT-1.

间变性甲状腺癌细胞系 OCUT-1 中染色体 der (11) t(3 ; 11) (q23 ; q23) x2 上的特异性亚端粒丢失。

• 发表时间: 2006
• 期刊: Int J Mol Med Jul ; 18(1)
• 作者: 堀倫 子;大橋 健一;その他;Hoshino M;Ishii A.;Yoshimi F;Kammori M.
• 通讯作者: Kammori M.

Markedly different clinical features in 2 diabetes mellitus patients with extremely high tissue levels of the mitochondrial DNA A3243G mutation.

线粒体 DNA A3243G 突变组织水平极高的 2 型糖尿病患者的临床特征明显不同。

• 发表时间: 2008
• 期刊: Gerontology 54
• 作者: Harihara S;Nakamura K;Fujiwara M;Arai T;Sawabe M
• 通讯作者: Sawabe M