Epigenetic deregulation of lamina-associated domains in Hutchinson-Gilford progeria syndrome
نویسندگان
چکیده
منابع مشابه
Hutchinson-Gilford Progeria Syndrome
The Hutchinson-Gilford syndrome or progeria is a laminopathy generated by mutations that affect LMNA gene. This produces an abnormal protein named progerine which alters the formation of the cellular membrane inducing premature aging of all cells. In the present review aspects related to the pathophysiology and clinical characteristics of this syndrome are shown.
متن کاملHutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford Progeria Syndrome (HGPS) is a lethal congenital disorder, characterised by premature appearance of accelerated ageing in children. Although HGPS was first descri‐ bed by Jonathan Hutchinson [1] and then by Hastings Gilford [2] more than a century ago, it was not until 2003 that the genetic basis of HGPS was uncovered [3, 4]. Approximately 90% of HGPS patients have an identica...
متن کاملmicroRNA deregulation in Hutchinson-Gilford Progeria
The Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disease characterized by an accelerated aging, due to the accumulation in nucleus of a toxic protein called progerin, leading to abnormal gene expression and potential microRNA (miRNA) deregulation. To evaluate the role of miRNAs in HGPS, we conducted an in vitro miRNome analysis by RT-qPCR on dermal fibroblasts of 5 patients and...
متن کاملHutchinson-Gilford progeria syndrome.
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare, uniformly fatal, segmental "premature aging" disease in which children exhibit phenotypes that may give us insights into the aging process at both the cellular and organismal levels. Initial presentation in early childhood is primarily based on growth and dermatologic findings. Primary morbidity and mortality for children with HG...
متن کاملEpigenetic involvement in Hutchinson-Gilford progeria syndrome: a mini-review.
Hutchinson-Gilford progeria syndrome (HGPS) is a rare human genetic disease that leads to a severe premature ageing phenotype, caused by mutations in the LMNA gene. The LMNA gene codes for lamin-A and lamin-C proteins, which are structural components of the nuclear lamina. HGPS is usually caused by a de novo C1824T mutation that leads to the accumulation of a dominant negative form of lamin-A c...
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ژورنال
عنوان ژورنال: Genome Medicine
سال: 2020
ISSN: 1756-994X
DOI: 10.1186/s13073-020-00749-y