1,044 results match your criteria: "Hutchinson-Gilford Progeria"
Ther 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.
Br 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.
View Article and Find Full Text PDFFront Physiol
November 2024
Musculoskeletal Translational Innovation Initiative, Carl J. Shapiro Department of Orthopaedic Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, United States.
Introduction: Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic condition characterized by premature aging, impacting multiple organ systems, including cardiovascular, musculoskeletal, and integumentary. Significant abnormalities in a transgenic mouse model (homozygous G608G mutation), specifically targeting the development of skull and facial bone indices through high-resolution CT scanning and cephalometric analysis.
Methods: Key measurements include bone thickness, skull volume, and cranial suture integrity.
bioRxiv
November 2024
Department of Medicine, University of California, Los Angeles; Los Angeles, CA 90095, USA.
Hutchinson-Gilford progeria syndrome (HGPS) is a progeroid disorder characterized by multiple aging-like phenotypes, including disease in large arteries. HGPS is caused by an internally truncated prelamin A (progerin) that cannot undergo the ZMPSTE24-mediated processing step that converts farnesyl-prelamin A to mature lamin A; consequently, progerin retains a carboxyl-terminal farnesyl lipid anchor. In cultured cells, progerin and full-length farnesyl-prelamin A (produced in cells) form an abnormal nuclear lamin meshwork accompanied by nuclear membrane ruptures and cell death; however, these proteins differ in their capacity to cause arterial disease.
View Article and Find Full Text PDFNat Aging
December 2024
Key Laboratory of Aging and Cancer Biology of Zhejiang Province, Zhejiang Key Laboratory of Medical Epigenetics, Hangzhou Normal University School of Basic Medical Sciences, Hangzhou, China.
Reactivation of endogenous retroviruses (ERVs) has been proposed to be involved in aging. However, the mechanism of reactivation and contribution to aging and age-associated diseases is largely unexplored. In this study, we identified a subclass of ERVs reactivated in senescent cells (termed senescence-associated ERVs (SA-ERVs)).
View Article and Find Full Text PDFAging Cell
October 2024
Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder caused by a mutation in the LMNA gene that provokes the synthesis of progerin, a mutant version of the nuclear protein lamin A that accelerates aging and precipitates death. The most clinically relevant feature of HGPS is the development of cardiac anomalies and severe vascular alterations, including massive loss of vascular smooth muscle cells, increased fibrosis, and generalized atherosclerosis. However, it is unclear if progerin expression in endothelial cells (ECs) causes the cardiovascular manifestations of HGPS.
View Article and Find Full Text PDFBiomolecules
October 2024
Epigenetics of Aging, Department of Dermatology and Allergy, TUM School of Medicine, Munich Institute of Biomedical Engineering (MIBE), Technical University of Munich (TUM), 85748 Garching, Germany.
The human skin, the body's largest organ, undergoes continuous renewal but is significantly impacted by aging, which impairs its function and leads to visible changes. This study aimed to identify botanical compounds that mimic the anti-aging effects of baricitinib, a known JAK1/2 inhibitor. Through in silico screening of a botanical compound library, 14 potential candidates were identified, and 7 were further analyzed for their effects on cellular aging.
View Article and Find Full Text PDFStem Cell Res
December 2024
Shulan International Medical College, Zhejiang Shuren University, Hangzhou 310015, China. Electronic address:
Lamin A/C is a protein encoded by the LMNA gene and belongs to the nuclear lamina protein family. Mutations in the LMNA gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. In this study, a lamin A/C knockout human induced pluripotent stem cell line was successfully generated using the CRISPR/Cas9 genome-editing technology, which was confirmed with normal pluripotency and karyotype.
View Article and Find Full Text PDFAging Cell
October 2024
Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, Maryland, USA.
J Assoc Physicians India
October 2024
Professor and Unit Head, Department of Internal Medicine, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College, Mumbai, Maharashtra, India.
Proc Natl Acad Sci U S A
October 2024
The Key Laboratory of Cell Proliferation and Differentiation of the Ministry of Education, College of Life Sciences, Peking University, Beijing 100871, China.
J Clin Invest
October 2024
Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), Madrid, Spain.
Cell Death Dis
October 2024
Sorbonne Université, UPMC Paris 06, INSERM UMRS974, Center of Research in Myology, Institut de Myologie, Paris, France.
Int J Mol Sci
August 2024
Epigenetics of Aging, Department of Dermatology and Allergy, TUM School of Medicine, Munich Institute of Biomedical Engineering (MIBE), Technical University of Munich (TUM), 85748 Garching, Germany.
Int J Mol Sci
August 2024
UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain.
Sci Transl Med
September 2024
Altos Labs, San Diego, CA 92122, USA.
Front Physiol
August 2024
Department of Biomedical Engineering, Duke University, Durham, NC, United States.
NAR Genom Bioinform
September 2024
Department of Cell Biology and Molecular Genetics, University of Maryland College Park, MD, USA.
Life Sci Alliance
November 2024
https://ror.org/013meh722 Department of Pharmacology, University of Cambridge, Cambridge, UK
Circulation
November 2024
Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, Spain (M.R.H., R.M.N., P.G., M.J.A.-M., A.D., V.A.).
Sci Rep
August 2024
Division of Basic Research, Guangzhou National Laboratory, Guangzhou, 510005, China.