Svep1 Is Important for Morphogenesis of Lymphatic System: Possible Implications in Lymphedema

Michelini, Sandro; Amato, Bruno; Ricci, Maurizio; Serrani, Roberta; Vešelényiová, Dominika; Kenanoğlu, Sercan; Kurti, Danjela; Dautaj, Astrit; Baglivo, Mirko; Compagna, Rita; Krajčovič, Juraj; Dündar, Munis; Basha, Syed Hussain; Priya, Sasi; Belgrado, Jean-Paul; Bertelli, Matteo

doi:10.2458/lymph.4678

Cited by 7 publications

(5 citation statements)

References 9 publications

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“…It regulates the production of growth factors and cytokines via destabilization of the respective mRNAs [36,37]. SVEP1, also known as Polydom, is a large extracellular mosaic protein that functions in protein interactions and adhesion [38]. A previous study indicated that SVEP1 plays a critical role during epidermal differentiation [39].…”

Section: Discussionmentioning

confidence: 99%

Single-Cell Transcriptome and Pigment Biochemistry Analysis Reveals the Potential for the High Nutritional and Medicinal Value of Purple Sea Cucumbers

Xing

Wang

Liu

et al. 2023

IJMS

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The sea cucumber Apostichopus japonicus has important nutritional and medicinal value. Unfortunately, we know little of the source of active chemicals in this animal, but the plentiful pigments of these animals are thought to function in intriguing ways for translation into clinical and food chemistry usage. Here, we found key cell groups with the gene activity predicted for the color morphology of sea cucumber body using single-cell RNA-seq. We refer to these cell populations as melanocytes and quinocytes, which are responsible for the synthesis of melanin and quinone pigments, respectively. We integrated analysis of pigment biochemistry with the transcript profiles to illuminate the molecular mechanisms regulating distinct pigment formation in echinoderms. In concert with the correlated pigment analysis from each color morph, this study expands our understanding of medically important pigment production, as well as the genetic mechanisms for color morphs, and provides deep datasets for exploring advancements in the fields of bioactives and nutraceuticals.

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Section: Discussionmentioning

confidence: 99%

Single-Cell Transcriptome and Pigment Biochemistry Analysis Reveals the Potential for the High Nutritional and Medicinal Value of Purple Sea Cucumbers

Xing

Wang

Liu

et al. 2023

IJMS

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“…SVEP1 and ACKR2 are involved in processes related to cell adhesion or macrophage recruitment to LECs. SVEP1 is a large extracellular mosaic protein with functions in protein interactions and adhesion, and its mutations have been found by a recent study in lymphedema patients [104]. Furthermore, the chemokine-scavenging receptor ACKR2 is proven to influence lymphangiogenesis; it regulates lymphatic vessel density, acting on the recruitment of pro-lymphangiogenic macrophages [105].…”

Section: Macrophage Activation and Lymphangiogenesismentioning

confidence: 99%

Low Efficacy of Genetic Tests for the Diagnosis of Primary Lymphedema Prompts Novel Insights into the Underlying Molecular Pathways

Bonetti

Paolacci

Samaja³

et al. 2022

IJMS

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Lymphedema is a chronic inflammatory disorder caused by ineffective fluid uptake by the lymphatic system, with effects mainly on the lower limbs. Lymphedema is either primary, when caused by genetic mutations, or secondary, when it follows injury, infection, or surgery. In this study, we aim to assess to what extent the current genetic tests detect genetic variants of lymphedema, and to identify the major molecular pathways that underlie this rather unknown disease. We recruited 147 individuals with a clinical diagnosis of primary lymphedema and used established genetic tests on their blood or saliva specimens. Only 11 of these were positive, while other probands were either negative (63) or inconclusive (73). The low efficacy of such tests calls for greater insight into the underlying mechanisms to increase accuracy. For this purpose, we built a molecular pathways diagram based on a literature analysis (OMIM, Kegg, PubMed, Scopus) of candidate and diagnostic genes. The PI3K/AKT and the RAS/MAPK pathways emerged as primary candidates responsible for lymphedema diagnosis, while the Rho/ROCK pathway appeared less critical. The results of this study suggest the most important pathways involved in the pathogenesis of lymphedema, and outline the most promising diagnostic and candidate genes to diagnose this disease.

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“…Several genes specifically have been associated with named lymphatic diseases, such as SOX18 in hypotrichosis-lymphedema-telangiectasia [ 114 ], FOXC2 in lymphedema-distichiasis [ 115 ], and VEGFR3 in Nonne–Milroy disease [ 116 , 117 ]. Other genes have been implicated in a variety of lymphangiogenic processes and include adhesion proteins ( PIEZO1 [ 118 ], SVEP1 [ 119 ], and CELSR1 [ 120 ]), growth factors ( ANGPT2 - TIE2 [ 121 ] and HGF [ 122 ]), transcription factors ( GATA2 [ 123 ]), receptor proteins ( EFNB2 [ 124 ]), and Notch-signaling genes [ 125 ].…”

Section: Genetic Causes or Indicatorsmentioning

confidence: 99%

Current Mechanistic Understandings of Lymphedema and Lipedema: Tales of Fluid, Fat, and Fibrosis

Duhon¹,

Phan²,

Taylor

et al. 2022

IJMS

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Lymphedema and lipedema are complex diseases. While the external presentation of swollen legs in lower-extremity lymphedema and lipedema appear similar, current mechanistic understandings of these diseases indicate unique aspects of their underlying pathophysiology. They share certain clinical features, such as fluid (edema), fat (adipose expansion), and fibrosis (extracellular matrix remodeling). Yet, these diverge on their time course and known molecular regulators of pathophysiology and genetics. This divergence likely indicates a unique route leading to interstitial fluid accumulation and subsequent inflammation in lymphedema versus lipedema. Identifying disease mechanisms that are causal and which are merely indicative of the condition is far more explored in lymphedema than in lipedema. In primary lymphedema, discoveries of genetic mutations link molecular markers to mechanisms of lymphatic disease. Much work remains in this area towards better risk assessment of secondary lymphedema and the hopeful discovery of validated genetic diagnostics for lipedema. The purpose of this review is to expose the distinct and shared (i) clinical criteria and symptomatology, (ii) molecular regulators and pathophysiology, and (iii) genetic markers of lymphedema and lipedema to help inform future research in this field.

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Svep1 Is Important for Morphogenesis of Lymphatic System: Possible Implications in Lymphedema

Cited by 7 publications

References 9 publications

Single-Cell Transcriptome and Pigment Biochemistry Analysis Reveals the Potential for the High Nutritional and Medicinal Value of Purple Sea Cucumbers

Single-Cell Transcriptome and Pigment Biochemistry Analysis Reveals the Potential for the High Nutritional and Medicinal Value of Purple Sea Cucumbers

Low Efficacy of Genetic Tests for the Diagnosis of Primary Lymphedema Prompts Novel Insights into the Underlying Molecular Pathways

Current Mechanistic Understandings of Lymphedema and Lipedema: Tales of Fluid, Fat, and Fibrosis

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