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Síndrome de Progeria Hutchinson-Gilford
Resumen
El Síndrome de Progeria de Hutchinson- Gilford es una enfermedad que se caracteriza por el envejecimiento prematuro en niños, debido a una mutación en el gen de Lámina tipo A involucrado en la mitosis celular. En el presente trabajo, con el objetivo de dar difusión al conocimiento de esta enfermedad, se señalan los procesos involucrados en su desarrollo, así como los avances científicos y el alcance de nuevas ventanas terapéuticas. La revisión se realizó consultando artículos en español e inglés empleando los motores de búsqueda Pubmed y Google Académico. La actualización del personal de salud sobre las enfermedades genéticas congénitas es de vital importancia para mejorar su detección, atención y manejo.
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Referencias
Santiago Fernández O, Osorio FG, Quesada V, Rodríguez F, Basso S, Maeso D, et al. Development of a CRISPR/Cas9-based therapy for Hutchinson-Gilford progeria syndrome. Nat Med. 2019; 25(3): 423-6.
Rankin J, Ellard S. The laminopathies: A clinical review. Clin Genet. 2006; 70(4): 261–74.
Kang S, Yoon MH, Park BJ. Laminopathies; Mutations on single gene and various human genetic diseases. BMB Rep. 2018; 51(7): 327-37.
Benedicto I, Dorado B, Andrés V. Molecular and Cellular Mechanisms Driving Cardiovascular Disease in Hutchinson-Gilford Progeria Syndrome: Lessons Learned from Animal Models. Cells. 2021; 10: 1157.
Panigrahi RG, Panigrahi A, Vijayakumar P, Choudhury P, Bhuyan SK, Bhuyan R, et al. Hutchinson-gilford progeria syndrome: a rare genetic disorder. Case Rep Dent. 2013; 2013: 631378.
S Chawla GS, Agrawal PM, Dhok A. Progeria: an extremely unusual disorder. Skeletal Radiol. 2017; 46(8): 1149-53.
Erdos MR, Cabral WA, Tavarez UL, Cao K, Gvozdenovic Jeremic J, Narisu N, et al. A targeted antisense therapeutic approach for Hutchinson–Gilford progeria syndrome. Nat Med. 2021 Mar 1; 27(3): 536–45.
Donnaloja F, Carnevali F, Jacchetti E, Raimondi MT. Lamin A/C Mechanotransduction in Laminopathies. Cells. 2020; 9(5): 1306-39.
Atalaia A, Ben Yaou R, Wahbi K, Sandre Giovannoli A. de, Vigouroux C, Bonne G. Laminopathies’ Treatments Systematic Review: A Contribution Towards a
‘Treatabolome. J Neuromuscul Dis. 2021; 8(3): 419-39.
Moiseeva O, Lopes Paciencia S, Huot G, Lessard F, Ferbeyre G. Permanent farnesylation of lamin A mutants linked to progeria impairs its phosphorylation at serine 22 during interphase. Aging (Albany NY). 2016; 8(2): 366-81.
Gonzalo S, Kreienkamp R, Askjaer P. Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations. Ageing Res Rev. 2017 Jan; 33: 18-29.
Sinha JK, Ghosh S, Raghunath M. Progeria: a rare genetic premature ageing disorder. Indian J Med Res. 2014; 139(5): 667-74.
Tae Kang H, Tae Park J, Choi K, Choi HJC, Won Jung C, Ree Kim G, et al. Chemical screening identifies ROCK as a target for recovering mitochondrial function in Hutchinson-Gilford progeria syndrome. Aging Cell. 2017; 16(3): 541-50.
Gordon LB, Rothman FG, López Otín C, Misteli T. Progeria: a paradigm for translational medicine. Cell. 2014 Jan 30; 156(3): 400-7.
Eisch V, Lu X, Gabriel D, Djabali K. Progerin impairs chromosome maintenance by depleting CENP-F from metaphase kinetochores in Hutchinson-Gilford progeria fibroblasts. Oncotarget. 2016; 7(17): 24700 - 18.
Ashapkin VV, Kutueva LI, Kurchashova SY, Kireev II. Are There Common Mechanisms Between the Hutchinson-Gilford Progeria Syndrome and Natural Aging? Front Genet. 2019 May 15; 10: 455.
Wang S, Yang Z, Xu Z, Chu Y, Liang Y, Wei L, et al. Clinical and genetic features of children with Hutchinson-Gilford progeria syndrome: a case series and a literature review. J Eur Acad Dermatology Venereol. 2021; 35(6): e387–e91.
Rork JF, Huang JT, Gordon LB, Kleinman M, Kieran MW, Liang MG. Initial Cutaneous Manifestations of Hutchinson-Gilford Progeria Syndrome. Pediatr Dermatol. 2014; 31(2): 196 - 202.
Domingo DL, Trujillo MI, Council SE, Merideth MA, Gordon LB, Wu T, et al. Hutchinson-Gilford progeria syndrome: Oral and craniofacial phenotypes. Oral Dis ]. 2009; 15(3): 187-95.
Samsudin DD, Devaera Y. Laporan kasus: Gizi Buruk Sekunder Akibat Kelainan Genetik: Hutchinson-Gilford Progeria Syndrome. Maj Kedokt UKI. 2018; 34(2): 82–9.
Kieran MW, Gordon L, Kleinman M. New approaches to Progeria. Pediatrics. 2007; 120(4): 834–41.
Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith ACM, Perry MB, et al. Phenotype and Course of Hutchinson–Gilford Progeria Syndrome. N Engl J Med. 2008 Feb 7; 358(6): 592-604.
Hamczyk MR, Villa Bellosta R, Gonzalo P, Andrés Manzano MJ, Nogales P, Bentzon JF, et al. Vascular Smooth Muscle–Specific Progerin Expression Accelerates Atherosclerosis and Death in a Mouse Model of Hutchinson-Gilford Progeria Syndrome. Circulation. 2018; 138(3): 266-82.
Silvera VM, Gordon LB, Orbach DB, Campbell SE, Machan JT, Ullrich NJ. Imaging characteristics of cerebrovascular arteriopathy and stroke in Hutchinson-Gilford progeria syndrome. AJNR Am J Neuroradiol. 2013; 34(5): 1091-7.
Saad Ahmed M, Ikram S, Bibi N, Mir A. Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease. Mol Neurobiol. 2018; 55(5): 4417–27.
Ullrich NJ, Gordon LB. Hutchinson-Gilford progeria syndrome. Handb Clin Neurol. 2015; 132: 249-64.
Ullrich NJ, Gordon LB. Hutchinson-Gilford progeria syndrome. Handb Clin Neurol. 2015; 132: 249-64.
Progeria - Pediatría - Manual MSD versión para profesionales. [Internet]. 2021 [citado 14/11/2021]. Disponible en: https://blogs.sld.cu/marionod/2017/11/25/manual-msd-version-para-profesionales/
Beauregard Lacroix E, Salian S, Kim H, Ehresmann S, DʹAmours G, Gauthier J, et al. A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. Eur J Hum Genet. 2020; 28(4): 461–8.
Acosta Aragón MA, Sierra Zúñiga MF, Sotelo Muñoz NF. Síndrome de Werner: a propósito de un caso probable. Medicina & Laboratorio. 2017; 23(9): 485-92.
Blondel S, Jaskowiak AL, Egesipe AL, Le Corf A, Navarro C, Cordette V, et al. Induced Pluripotent Stem Cells Reveal Functional Differences Between Drugs Currently Investigated in Patients With Hutchinson-Gilford Progeria Syndrome. Stem Cells Transl Med. 2014; 3(4): 510-9.
Cubria MB, Suarez S, Masoudi A, Oftadeh R, Kamalapathy P, DuBose A, et al. Evaluation of musculoskeletal phenotype of the G608G progeria mouse model with lonafarnib, pravastatin, and zoledronic acid as treatment groups. Proc Natl Acad Sci USA. 2020; 117(22): 12029.
Aboud B. Is Rapamycin an Effective Anti-aging Drug? Sci J Lander Coll Arts Sci. 2020; 13(2): 36-41.
Mattioli E, Andrenacci D, Mai A, Valente S, Robijns J, De Vos WH, et al. Statins and Histone Deacetylase Inhibitors Affect Lamin A/C - Histone Deacetylase 2 Interaction in Human Cells. Front Cell Dev Biol. 2019 Jan 31; 7(6): 1-19.
Larrieu D, Britton S, Demir M, Rodriguez R, Jackson SP. Chemical inhibition of NAT10 corrects defects of laminopathic cells. Science. 2014; 344(6183): 527-32.
Beljanski V. Lonafarnib. XPharm Compr Pharmacol Ref. 2021; 1–7.
Frankel D, Delecourt V, Harhouri K, Sandre Giovannoli A. de, Lévy N, Kaspi E, et al. MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies. Aging Cell. 2018 Aug; 17(4): e12766.
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