Hutchinson-Gilford progeria syndrome is an autosomal dominant, rare, fatal pediatric segmental premature aging disease. Cardiovascular and cerebrovascular diseases constitute the major cause of morbidity and mortality. Patients with the syndrome and severe aortic valve stenosis have been described in the literature, and for all of them a strategy of conservative management has been followed. We describe the first successful treatment of a 23-year-old Hutchinson-Gilford progeria syndrome patient with severe aortic stenosis who underwent transapical transcatheter aortic valve replacement.
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http://dx.doi.org/10.1016/j.athoracsur.2020.03.067 | DOI Listing |
Cell Biol Toxicol
December 2024
Department of Laboratory Medicine, Affiliated Qingyuan Hospital of Guangzhou Medical University, Qingyuan People's Hospital, Qingyuan, 511518, Guangdong, China.
N-acetyltransferase 10 (NAT10) is a member of the Gcn5-related N-acetyltransferase (GNAT) family and it plays a crucial role in various cellular processes, such as regulation of cell mitosis, post-DNA damage response, autophagy and apoptosis regulation, ribosome biogenesis, RNA modification, and other related pathways through its intrinsic protein acetyltransferase and RNA acetyltransferase activities. Moreover, NAT10 is closely associated with the pathogenesis of tumors, Hutchinson-Gilford progeria syndrome (HGPS), systemic lupus erythematosus, pulmonary fibrosis, depression and host-pathogen interactions. In recent years, mRNA acetylation has emerged as a prominent focus of research due to its pivotal role in regulating RNA stability and translation.
View Article and Find Full Text PDFTher Adv Rare Dis
December 2024
Department of Pharmacy Practice Amrita School of Pharmacy, Amrita Vishwa Vidyapeetham, Kochi, KL, India.
Hutchinson-Gilford Progeria syndrome (HGPS) serves as a prominent model for Progeroid syndromes, a group of rare genetic disorders characterized by accelerated aging. This review explores the genetic basis, clinical presentation, and complications of HGPS. HGPS is caused by mutations in the LMNA gene, resulting in the production of a defective structural protein, prelamin A.
View Article and Find Full Text PDFPNAS Nexus
December 2024
Cell Biology Center, Institute of Innovative Research, Tokyo Institute of Technology, Yokohama 226-8503, Japan.
The nuclear lamina (NL) lines the nuclear envelope (NE) to maintain nuclear structure in metazoan cells. The major NL components, the nuclear lamins contribute to the protection against NE rupture induced by mechanical stress. Lamin A (LA) and a short form of the splicing variant lamin C (LC) are diffused from the nucleoplasm to sites of NE rupture in immortalized mouse embryonic fibroblasts (MEFs).
View Article and Find Full Text PDFPLoS One
December 2024
Department of Biological Sciences, University of South Carolina, Columbia, South Carolina, United States of America.
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic condition characterized by features of accelerated aging, and individuals with HGPS seldom live beyond their mid-teens. The syndrome is commonly caused by a point mutation in the LMNA gene which codes for lamin A and its splice variant lamin C, components of the nuclear lamina. The mutation causing HGPS leads to production of a truncated, farnesylated form of lamin A referred to as "progerin.
View Article and Find Full Text PDFBr J Hosp Med (Lond)
November 2024
Department of Hearing Center, Children's Hospital of Zhejiang University School of Medicine, Clinical Research Center for Child Health, Hangzhou, Zhejiang, China.
Few hearing loss studies have been conducted in patients with progeria, and only the possibility of low-frequency conductive hearing loss has been mentioned. The primary objective of this study is to perform a comprehensive analysis of the clinical audiological characteristics of children with Hutchinson-Gilford progeria syndrome (HGPS), and the secondary objective is to analyse the causes of their hearing loss and what can be done to enable them to hear as well as possible. Ten children with HGPS underwent impedance audiometry (tympanogram), otoacoustic emissions, and pure-tone audiometry tests.
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