Abstract 2691 Anti Anti-Aging: The Effects of LMNA Gene Mutations in Progeria
Authors: Thomas Clairand, Andrew Hamzo, Samuel Hong, Edward Huang, HaoMing (Jason) Huang, Emma Kao, Thanat (Munich) Limapichat, Saeko Sakuraba, Xiaoru (Alex) Tan, Yicheng (Eason) Zhu Teacher: Mr. James Greig Affecting 1 in 4 million children, Hutchinson-Gilford Progeria Syndrome (HGPS) is an autosomal dominant disease caused by a mutation on the LMNA gene. Characterized by premature aging from childhood, patients with HGPS have an approximate life expectancy of 14 years. A single base substitution mutation (C1824T) activates a cryptic splicing site in pre-mRNA encoded for prelamin A.
Authors
- Edward Huang
- James Greig
- Xiaoyu Tan (ORCID: https://orcid.org/0000-0002-1382-2682)
- Yicheng Zhu (ORCID: https://orcid.org/0000-0003-3037-0398)
- Saeko Sakuraba
- Samuel Hong (ORCID: https://orcid.org/0000-0002-6870-6857)
- H. Huang (ORCID: https://orcid.org/0009-0005-2859-4319)
- Thomas Clairand
- Andrew Hamzo
- Thanat Limapichat
- Emma Kao
Institutions
- Bury College (GB)
Publication Details
- Journal
- Journal of Biological Chemistry
- Published
- 2025-05-01
- DOI
- https://doi.org/10.1016/j.jbc.2025.110053
- Primary Topic
- Nuclear Structure and Function
- Type
- article
- Field-Weighted Citation Impact
- 0.00