Kyphoscolitic type of Ehlers-Danlos syndrome with prenatal stroke

Zahed-Cheikh, Meriem; Tosello, Barthélémy; Coze, S.; Gire, Catherine

doi:10.1007/s13312-017-1054-x

Cited by 5 publications

(3 citation statements)

References 6 publications

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“…The hydroxylysine residues provide attachment sites for the carbohydrates and tensile strength and mechanical stability for the collagen fibrils (Rautavuoma et al, 2004 ). The abnormal expression or mutation of PLODs is associated with collagen-related diseases, such as Kyphoscoliotic type of EDS VIA (Pousi et al, 1994 ; Giunta et al, 2005 ; Abdalla et al, 2015 ; van Dijk et al, 2017 ; Zahed-Cheikh et al, 2017 ), Bruck Syndrome (BS) (Gistelinck et al, 2016 ) and RDEB (Watt et al, 2015 ) (Table 2 ). PLOD1 regulates the hydroxylation of lysyl residues on collagen type V. The duplication of the exon 10 to exon 16 region of PLOD1 (p.Glu326_Lys585dup) gene (Pousi et al, 1994 ; Giunta et al, 2005 ) and two mutations on Gln208 and Tyr675 cause the loss function of PLOD1, which may lead to EDS VIA (Abdalla et al, 2015 ; van Dijk et al, 2017 ).…”

Section: Physiological Functions Of Plodsmentioning

confidence: 99%

“…The mutation or overexpression of PLODs has been detected in many human diseases. The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS type VIA) is due to a mutation in the PLOD1 gene (Rohrbach et al, 2011 ; Zahed-Cheikh et al, 2017 ). The reduction of PLOD3 protein at the basement membrane is associated with recessive dystrophic epidermolysis bullosa (RDEB) progression (Watt et al, 2015 ).…”

Section: Introductionmentioning

confidence: 99%

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Roles of PLODs in Collagen Synthesis and Cancer Progression

Qi¹,

Xu²

2018

Front. Cell Dev. Biol.

158

164

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Collagen is the major component of extracellular matrix. Collagen cross-link and deposition depend on lysyl hydroxylation, which is catalyzed by procollagen-lysine, 2-oxoglutarate 5-dioxygenase (PLOD). Aberrant lysyl hydroxylation and collagen cross-link contributes to the progression of many collagen-related diseases, such as fibrosis and cancer. Three lysyl hydroxylases (LH1, LH2, and LH3) are identified, encoded by PLOD1, PLOD2, and PLOD3 genes. Expression of PLODs is regulated by multiple cytokines, transcription factors and microRNAs. Dysregulation of PLODs promotes cancer progression and metastasis, suggesting that targeting PLODs is potential strategy for cancer treatment. Here, we summarize the recent progress in the investigation of function and regulation of PLODs in normal tissue development and disease progression, especially in cancer.

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Section: Physiological Functions Of Plodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Roles of PLODs in Collagen Synthesis and Cancer Progression

Qi¹,

Xu²

2018

Front. Cell Dev. Biol.

158

164

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“…The syndrome is characterized by connective tissue dysplasia, which leads to hypotonia, malignant kyphoscoliosis, hyperlaxity, hyper-elasticity, and skin fragility. In several cases of a prenatal brain stroke, a biallelic duplication of exons 10 and 16 in the PLOD1 gene was found [86].…”

Section: Autosomal Recessive Inheritancementioning

confidence: 99%

The Genetic Basis of Strokes in Pediatric Populations and Insight into New Therapeutic Options

Janković

Petrović²,

Novaković

et al. 2022

IJMS

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Strokes within pediatric populations are considered to be the 10th leading cause of death in the United States of America, with over half of such events occurring in children younger than one year of life. The multifactorial etiopathology that has an influence on stroke development and occurrence signify the importance of the timely recognition of both modifiable and non-modifiable factors for adequate diagnostic and treatment approaches. The early recognition of a stroke and stroke risk in children has the potential to advance the application of neuroprotective, thrombolytic, and antithrombotic interventions and rehabilitation strategies to the earliest possible timepoints after the onset of a stroke, improving the outcomes and quality of life for affected children and their families. The recent development of molecular genetic methods has greatly facilitated the analysis and diagnosis of single-gene disorders. In this review, the most significant single gene disorders associated with pediatric stroke are presented, along with specific therapeutic options whenever they exist. Besides monogenic disorders that may present with stroke as a first symptom, genetic polymorphisms may contribute to the risk of pediatric and perinatal stroke. The most frequently studied genetic risk factors are several common polymorphisms in genes associated with thrombophilia; these genes code for proteins that are part of the coagulation cascade, fibrolysis, homocystein metabolism, lipid metabolism, or platelets. Single polymorphism frequencies may not be sufficient to completely explain the stroke causality and an analysis of several genotype combinations is a more promising approach. The recent steps forward in our understanding of the disorders underlying strokes has given us a next generation of therapeutics and therapeutic targets by which to improve stroke survival, protect or rebuild neuronal connections in the brain, and enhance neural function. Advances in DNA sequencing and the development of new tools to correct human gene mutations have brought genetic analysis and gene therapy into the focus of investigations for new therapeutic options for stroke patients.

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