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Rapidly dividing tumors, embryos, and wounded tissues require more oxygen than usual, lowering the oxygen concentration in the blood. At low oxygen or hypoxic conditions, an oxygen-sensitive transcription factor called the hypoxia-inducible factor 1 or HIF1 is activated. HIF1 is a dimeric protein of alpha (ɑ) and beta (β) subunits.  Under optimal oxygen conditions, HIF1β is present in the nucleus while HIF1ɑ remains in the cytosol. HIF1ɑ is hydroxylated by prolyl...
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The vascular system comprises an extensive network of arteries, capillaries, and veins. The vascular system can be broadly divided into the blood and lymphatic systems. Typically, blood vessels can be categorized into three histological regions: tunica intima, tunica media, and tunica adventitia. The tunica intima consists of a single layer of endothelial cells attached to the basal lamina. Underlying the basal lamina is a connective tissue layer and an elastic lamina that gives stability and...
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Blood vessel formation starts early during embryonic development, around day 7. In the extraembryonic yolk sac, mesodermal precursor cells called hemangioblast proliferate and differentiate into angioblast. Angioblasts express vascular endothelial growth factor receptor 2 or VEGFR2, which binds VEGF-A, a proangiogenic factor, guiding blood vessel formation. VEGF signaling promotes angioblasts to form a blood island in the developing embryo. Angioblasts further differentiate, giving rise to...
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Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
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Plant morphogenesis—the development of a plant’s form and structure—involves several overlapping developmental processes, including growth and cell differentiation. Precursor cells differentiate into specific cell types, which are organized into the tissues and organ systems that make up the functional plant.
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Genes and phenotypes in vascular malformations.

P H Hoeger1

  • 1Department of Paediatric Dermatology, Catholic Children's Hospital Wilhelmstift, Hamburg, Germany.

Clinical and Experimental Dermatology
|December 28, 2020
PubMed
Summary

Vascular malformations (VMs) stem from developmental defects, often caused by genetic mutations. Advanced sequencing aids diagnosis and enables targeted therapies for these complex vascular conditions.

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Science

Background:

  • Vascular malformations (VMs) arise from localized defects in vascular development.
  • VMs can result from sporadic postzygotic or autosomal dominant germline mutations.
  • Genotype-phenotype correlations in VMs are complex due to pleiotropy and redundancy.

Purpose of the Study:

  • To explore the challenges in diagnosing vascular malformations.
  • To highlight the role of genetic mutations in VM etiology.
  • To emphasize the potential of advanced sequencing and targeted therapies.

Main Methods:

  • Review of genetic mutation types (somatic and germline) and their impact on VM phenotypes.
  • Analysis of factors influencing phenotypic expression, including epigenetic modifications and second hits.

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  • Discussion of diagnostic difficulties and the potential of next-generation sequencing.

    • Main Results:

    • The phenotypic spectrum of somatic mutations is broad and depends on multiple factors.
    • Germline mutation phenotypes are influenced by penetrance, expressivity, and epigenetic factors.
    • Differential diagnosis of VMs is challenging, except for specific syndromes like Proteus or CLOVES.

    Conclusions:

    • Increasing analytic sensitivity of sequencing techniques like next-generation sequencing will greatly facilitate VM diagnosis.
    • High-sensitivity molecular techniques are crucial for developing targeted pharmacotherapies.
    • Targeted inhibition of activating mutations shows promise for VM treatment.