Hutchinson-Gilford Progeria Syndrome: A Rare Genetic Disorder

Panigrahi, Rajat; Panigrahi, Antarmayee; Vijayakumar, Poornima; Choudhury, Priyadarshini; Bhuyan, Sanat Kumar; Bhuyan, Ruchi; Maragathavalli, G; Pati, Abhilash

doi:10.1155/2013/631378

Cited by 6 publications

(7 citation statements)

References 9 publications

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“…Early death usually occurs in the second decade of life from myocardial infarction or cerebrovascular disease due to premature arteriosclerosis [ 12 ]. The average life expectancy for a child with progeria is about 13–14 years [ 13 , 14 ]. Some patients with this disease die younger and others live longer, even as old as 20 years [ 15 ].…”

Section: Introductionmentioning

confidence: 99%

“…Some patients with this disease die younger and others live longer, even as old as 20 years [ 15 ]. Cardiovascular problems or cerebrovascular disease are the eventual cause of death in most children with progeria [ 14 ]. Postmortem cardiovascular findings include loss of vascular smooth-muscle cells in coronary vessels, with replacement by fibrous tissue [ 16 , 17 ].…”

Section: Introductionmentioning

confidence: 99%

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A 13-Year-Old Boy from Thailand with Hutchinson-Gilford Progeria Syndrome with Coronary Artery and Aortic Calcification and Non-ST-Segment Elevation Myocardial Infarction (NSTEMI)

et al. 2021

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

A 13-Year-Old Boy from Thailand with Hutchinson-Gilford Progeria Syndrome with Coronary Artery and Aortic Calcification and Non-ST-Segment Elevation Myocardial Infarction (NSTEMI)

et al. 2021

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“…The most prominent HGPS cellular phenotypes include nuclear dysmorphism, heterochromatin alterations, chromosomal and telomere aberrations. Altered nuclear functions include compromised cell-cycle regulation, impaired DNA repair, increased apoptosis and senescence [ 11 , 16 , 17 ].…”

Section: Introductionmentioning

confidence: 99%

All-trans retinoic acid and rapamycin normalize Hutchinson Gilford progeria fibroblast phenotype

et al. 2015

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Hutchinson Gilford progeria syndrome is a fatal disorder characterized by accelerated aging, bone resorption and atherosclerosis, caused by a LMNA mutation which produces progerin, a mutant lamin A precursor. Progeria cells display progerin and prelamin A nuclear accumulation, altered histone methylation pattern, heterochromatin loss, increased DNA damage and cell cycle alterations. Since the LMNA promoter contains a retinoic acid responsive element, we investigated if all-trans retinoic acid administration could lower progerin levels in cultured fibroblasts. We also evaluated the effect of associating rapamycin, which induces autophagic degradation of progerin and prelamin A.We demonstrate that all-trans retinoic acid acts synergistically with low-dosage rapamycin reducing progerin and prelamin A, via transcriptional downregulation associated with protein degradation, and increasing the lamin A to progerin ratio. These effects rescue cell dynamics and cellular proliferation through recovery of DNA damage response factor PARP1 and chromatin-associated nuclear envelope proteins LAP2α and BAF.The combined all-trans retinoic acid-rapamycin treatment is dramatically efficient, highly reproducible, represents a promising new approach in Hutchinson-Gilford Progeria therapy and deserves investigation in ageing-associated disorders.

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“…Before 2 y* ago patient came to the hospital for the treatment of dental caries which is already explained his past dental history. But at that time Patient was uncooperative so, treatment could not be done [35].…”

Section: Casementioning

confidence: 99%

Risk Factors, Prevalence and Diagnosis of Hutchison Gilford Syndrome With Special Reference to Case Reports

Sharma

Joshi

2017

Int J Pharm Pharm Sci

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Progeria also known Hutchinson-Gilford progeria syndrome (HGPS), is an extremely rare genetic disorder. The prevalence of HGPS is 1 in 4-8 million newborns. Progeria causes premature, rapid aging shortly after birth present within the first year of life. Recently, de novo point mutations in the Lmna gene at position 1824 of the coding sequence have been found in persons with HGPS. Lmna encodes lamin A and C, the A-type lamins, which are an important structural component of the nuclear envelope and play a role in protein processing. The most common HGPS mutation is located at codon 608 (G608G). This mutation responsible for creating a cryptic splice site within exon 11, which deletes a proteolytic cleavage site within the expressed mutant lamin A. In Progeria, gene mutation results in the deletion of a Zmpste24/FACE1 splice site in prelamin A, preventing end terminal cleavage. The result of this point mutation can be observed by the main clinical and radiological features include alopecia, thin skin hypoplasia of nails, loss of subcutaneous fat, and osteolysis. The common symptoms of HGPS is a loss of eyebrows and eyelashes which can observed in early childhood and due to receding hairline and blading can also observed. Generally, this patient has facial character include microganthia (small jaw), craniofacial disproportion, prominent eyes, scalp veins and alopecia (loss of hair), restricted joint mobility and severe premature atherosclerosis. Laboratory findings are unremarkable, with the exception of an increased urinary excretion of hyaluronic acid. There is presently no effective therapy is available for Hutchinson-Gilford progeria syndrome (HGPS) but, it is essential to monitor carefully cardiovascular and cerebrovascular disease So, Treatment usually includes low dose aspirin which helps prevent the atherothrombotic events, stroke and heart attacks by hindering platelet aggregation.

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Hutchinson-Gilford Progeria Syndrome: A Rare Genetic Disorder

Cited by 6 publications

References 9 publications

A 13-Year-Old Boy from Thailand with Hutchinson-Gilford Progeria Syndrome with Coronary Artery and Aortic Calcification and Non-ST-Segment Elevation Myocardial Infarction (NSTEMI)

A 13-Year-Old Boy from Thailand with Hutchinson-Gilford Progeria Syndrome with Coronary Artery and Aortic Calcification and Non-ST-Segment Elevation Myocardial Infarction (NSTEMI)

All-trans retinoic acid and rapamycin normalize Hutchinson Gilford progeria fibroblast phenotype

Risk Factors, Prevalence and Diagnosis of Hutchison Gilford Syndrome With Special Reference to Case Reports

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