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Angiopoietin-2: A Therapeutic Target for Vascular Protection in Hutchinson-Gilford Progeria Syndrome.
Int J Mol Sci
December 2024
Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD 20742, USA.
Hutchinson-Gilford progeria syndrome (HGPS) is a pediatric condition characterized by clinical features that resemble accelerated aging. The abnormal accumulation of a toxic form of the lamin A protein known as progerin disrupts cellular functions, leading to various complications, including growth retardation, loss of subcutaneous fat, abnormal skin, alopecia, osteoporosis, and progressive joint contractures. Death primarily occurs as the result of complications from progressive atherosclerosis, especially from cardiac disease, such as myocardial infarction or heart failure, or cerebrovascular disease like stroke.
View Article and Find Full Text PDFVascular dysfunction in Hutchinson-Gilford progeria syndrome.
Trends Mol Med
December 2024
Department of Endocrinology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, 230001, China; Anhui Provincial Key Laboratory of Metabolic Health and Panvascular Diseases, Hefei, 23001, China. Electronic address:
Most patients with Hutchinson-Gilford progeria syndrome (HGPS) succumb to cardiovascular disease. Recent studies by Barettino et al., Cardoso et al.
View Article and Find Full Text PDFHutchinson-Gilford progeria syndrome: unraveling the genetic basis, symptoms, and advancements in therapeutic approaches.
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 PDFMAM-STAT3-Driven Mitochondrial Ca Upregulation Contributes to Immunosenescence in Type A Mandibuloacral Dysplasia Patients.
Adv Sci (Weinh)
December 2024
Guangdong Key Laboratory of Genomic Stability and Disease Prevention, Shenzhen Key Laboratory of Anti-Aging and Regenerative Medicine, Shenzhen Engineering Laboratory of Regenerative Technologies for Orthopedic Diseases, Department of Medical Cell Biology and Genetics, Health Science Center, Shenzhen University, Shenzhen, 518060, China.
Individuals with homozygous laminA/C p.R527C mutations manifest a severe form of Mandibuloacral dysplasia-(MAD) and exhibit overlapping progeroid symptoms, for which the underlying molecular pathology remains unknown. Herein, it is shown that MAD patients achieved inflammaging with different pro-inflammatory cytokines compared to progeria-(HGPS) patient.
View Article and Find Full Text PDFCharacterization of the craniofacial abnormalities of the homozygous G608G progeria mouse model.
Front 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.
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