کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6808998 | 1433593 | 2012 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
C1824T mutation in the LMNA gene has no association with senile cataract
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: C1824T mutation in the LMNA gene has no association with senile cataract C1824T mutation in the LMNA gene has no association with senile cataract](/preview/png/6808998.png)
چکیده انگلیسی
Mutations in the LMNA gene encoding lamins A/C are responsible for Hutchinson-Gilford syndrome (HGS), a disorder of premature aging. Cataract is 1 of the main manifestations. The most prevalent mutation in Hutchinson-Gilford syndrome is C1824T, which activates a cryptic splice donor site to produce an abnormal lamin A protein. The purpose of this study was to investigate a possible association of the C1824T mutation with age-related cataract. Anterior lens capsule material was collected during cataract extraction surgery from 178 patients with senile cataract during 2007-2008. DNA and mRNA were extracted and sequenced for the LMNA gene. DNA and cDNA were screened for the C1824T mutation, which was not detected. Messenger RNA (mRNA) expression was normal, with no truncation. We found that human age-related nuclear cataract is not associated with LMNA gene mutations or truncation of lamin A.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neurobiology of Aging - Volume 33, Issue 7, July 2012, Pages 1487.e15-1487.e19
Journal: Neurobiology of Aging - Volume 33, Issue 7, July 2012, Pages 1487.e15-1487.e19
نویسندگان
Tamilla Sadikov, Amos J. Simon, Bat-Chen R. Avraham-Lubin, Olga Dratviman-Storobinsky, Yoram Cohen, Nitza Goldenberg-Cohen,