Introduction: Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder. It is characterized by severe growth failure, premature aging, and very early atherosclerosis with coronary artery disease and cerebrovascular disease.
Case Report: A 10-year-old boy with HGPS was admitted to our department because of progressive deterioration after a mild head injury. The CT scans revealed epidural hematoma in posterior fossa and another one in the temporal region on the left side. On admission the child was given an estimated score of 10 on the GCS. Neurological examination revealed right hemiparesis. The boy was operated on, and both hematomas were evacuated. In a few days the neurological symptoms disappeared, and he was discharged from the hospital with only residual, minimal right hemiparesis.
Conclusion: Intracranial pathology was certainly caused by the head trauma, but was more severe than would have been expected had the trauma been the sole cause. We suggest that progressive atherosclerosis of intracranial vessels was responsible for formation of the hematomas.
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http://dx.doi.org/10.1007/s00381-002-0679-8 | DOI Listing |
Aging Cell
January 2025
Departamento de Genética y Biología Molecular, Centro de Investigación y de Estudios Avanzados, Ciudad de México, Mexico.
Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disease caused by progerin, a mutant variant of lamin A. Progerin anchors aberrantly to the nuclear envelope disrupting a plethora of cellular processes, which in turn elicits senescence. We previously showed that the chromosomal region maintenance 1 (CRM1)-driven nuclear export pathway is abnormally enhanced in patient-derived fibroblasts, due to overexpression of CRM1.
View Article and Find Full Text PDFCancers (Basel)
January 2025
Department of Molecular Biosciences, University of South Florida, 4202 East Fowler Avenue, ISA2015, Tampa, FL 33620, USA.
Background/objectives: As cells divide, telomeres shorten through a phenomenon known as telomere attrition, which leads to unavoidable senescence of cells. Unprotected DNA exponentially increases the odds of mutations, which can evolve into premature aging disorders and tumorigenesis. There has been growing academic and clinical interest in exploring this duality and developing optimal therapeutic strategies to combat telomere attrition in aging and cellular immortality in cancer.
View Article and Find Full Text PDFGeroscience
January 2025
Department of Neuropathology, Instituto de Fisiología Celular, Universidad Nacional Autónoma de México (UNAM), 04510, Mexico City, Mexico.
D-β-hydroxybutyrate, BHB, has been previously proposed as an anti-senescent agent in vitro and in vivo in several tissues including vascular smooth muscle. Moreover, BHB derivatives as ketone esters alleviate heart failure. Here, we provide evidence of the potential therapeutic effect of BHB on Hutchinson-Gilford progeria syndrome (HGPS), a rare condition characterized by premature aging and heart failure, caused by the presence of progerin, the aberrant protein derived from LMNA/C gene c.
View Article and Find Full Text PDFCirc Cardiovasc Imaging
January 2025
Department of Cardiology, Boston Children's Hospital, Boston, MA, USA (F.J.O., F.I.L., A.M.F., D.M.H., A.P.).
Mech Ageing Dev
January 2025
Department Oral & Maxillofacial Surgery/Pathology, Amsterdam Movement Sciences & Amsterdam Bone Center (ABC), Amsterdam University Medical Center location Vrije Universiteit Amsterdam & Academic Center for Dentistry Amsterdam (ACTA), Gustav Mahlerlaan 3004, Amsterdam 1081 LA, the Netherlands; TEC-MMG-LIS Lab, European Space Agency (ESA), European Space Research and Technology Center (ESTEC), Keplerlaan 1, Noordwijk 2201 AZ, the Netherlands.
The Linker of Nucleoskeleton and Cytoskeleton (LINC) complex plays a crucial role in connecting the nuclear envelope to the cytoskeleton, providing structural support to the nucleus and facilitating mechanical signaling between the extracellular environment and the nucleus. Research in mechanobiology onboard the International Space Station (ISS) and in simulated microgravity (SMG) highlight the importance of gravity in functional mechanotransduction. Although the altered gravity research regarding mechanobiology has been greatly focused on the cytoskeleton and the extracellular matrix (ECM), recent research demonstrates that SMG also induces changes in nuclear mechanics and gene expression patterns, which have been shown to be LINC complex dependent.
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