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.
authors.affiliation: The Krieger Eye Research Laboratory, Felsenstein Medical Research Center, Petah Tiqwa, Tel Aviv, Israel.
authors.forename: Tamilla
authors.initials: T
authors.lastname: Sadikov
authors.forename: Amos J
authors.initials: AJ
authors.lastname: Simon
authors.forename: Bat-Chen R
authors.initials: BC
authors.lastname: Avraham-Lubin
authors.forename: Olga
authors.initials: O
authors.lastname: Dratviman-Storobinsky
authors.forename: Yoram
authors.initials: Y
authors.lastname: Cohen
authors.forename: Nitza
authors.initials: N
authors.lastname: Goldenberg-Cohen
mesh_terms: D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics*; D002386:Cataract / Q000175:diagnosis / Q000235:genetics*; D056726:Genetic Association Studies / Q000379:methods; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D011371:Progeria / Q000175:diagnosis / Q000235:genetics*
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A