C1824T mutation in the LMNA gene has no association with senile cataract

Tamilla Sadikov; Amos J. Simon; Bat Chen R. Avraham-Lubin; Olga Dratviman-Storobinsky; Yoram Cohen; Nitza Goldenberg-Cohen

doi:10.1016/j.neurobiolaging.2011.09.034

C1824T mutation in the LMNA gene has no association with senile cataract

Tamilla Sadikov, Amos J. Simon, Bat Chen R. Avraham-Lubin, Olga Dratviman-Storobinsky, Yoram Cohen, Nitza Goldenberg-Cohen

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	1487.e15-1487.e19
Journal	Neurobiology of Aging
Volume	33
Issue number	7
DOIs	https://doi.org/10.1016/j.neurobiolaging.2011.09.034
State	Published - 1 Jan 2012
Externally published	Yes

Keywords

C1824T
LMNA mutation
Lamins A/C
Progeria
Senile cataract

ASJC Scopus subject areas

General Neuroscience
Aging
Clinical Neurology
Developmental Biology
Geriatrics and Gerontology

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10.1016/j.neurobiolaging.2011.09.034

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title = "C1824T mutation in the LMNA gene has no association with senile cataract",

abstract = "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.",

keywords = "C1824T, LMNA mutation, Lamins A/C, Progeria, Senile cataract",

author = "Tamilla Sadikov and Simon, {Amos J.} and Avraham-Lubin, {Bat Chen R.} and Olga Dratviman-Storobinsky and Yoram Cohen and Nitza Goldenberg-Cohen",

note = "Funding Information: This work was presented in part at the annual meeting of the Israel Society for Eye and Vision Research, Neve Ilan, Israel, March 2009. This study was supported in part by the Zanvyl and Isabelle Krieger Fund, Baltimore, MD, USA (NG-C); the Eldor-Metzner Clinician Scientist Award, Chief Scientist office, Ministry of Health (NG-C, Grant number 3-3741 ); Lirot Foundation to prevent blindness (NGC, 3-4538 ) and the Israel Science Foundation (ISF, NGC, 1371/08 )-the Legacy Heritage Clinical Research Initiative (YC; Grant number 1716/08 ). ",

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AU - Cohen, Yoram

AU - Goldenberg-Cohen, Nitza

N1 - Funding Information: This work was presented in part at the annual meeting of the Israel Society for Eye and Vision Research, Neve Ilan, Israel, March 2009. This study was supported in part by the Zanvyl and Isabelle Krieger Fund, Baltimore, MD, USA (NG-C); the Eldor-Metzner Clinician Scientist Award, Chief Scientist office, Ministry of Health (NG-C, Grant number 3-3741 ); Lirot Foundation to prevent blindness (NGC, 3-4538 ) and the Israel Science Foundation (ISF, NGC, 1371/08 )-the Legacy Heritage Clinical Research Initiative (YC; Grant number 1716/08 ).

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N2 - 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.

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C1824T mutation in the LMNA gene has no association with senile cataract

Abstract

Keywords

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