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Related Concept Videos

Tight Junctions01:29

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Tight junctions are molecular seals between cells that prevent the leaking of fluids, ions, and other small solutes across cavities and compartments in multicellular organisms. They are mainly composed of claudin and occludin transmembrane proteins, and other proteins such as tricellulin and JAM (junctional adhesion molecule). All these proteins are 4-pass transmembrane proteins, except JAM, which is a single-pass transmembrane protein belonging to the immunoglobulin superfamily. The...
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In animal cells, the extracellular matrix allows cells within tissues to withstand external stresses and transmits signals from the outside of the cell to the inside. The extracellular matrix is extensive, and its composition varies between different types of tissues. For example, the reticular fibers and ground substance make up the ECM in loose connective tissue, while collagen and bone minerals make up the ECM of bone tissue. 
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Anchoring Junctions01:03

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Anchoring junctions are multiprotein complexes that help cells connect to other cells and the extracellular matrix. Anchoring junctions are present on the lateral and basal surfaces of cells, providing strong and flexible connections. Focal adhesions are often formed due to cell interactions with the ECM substrata, which initiate signal transduction via kinase cascades and other mechanisms. Together, they provide stability and tissue integrity. There are three types of anchoring junctions:...
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The extracellular matrix or ECM holds cells together to form a tissue and allows the cells within the tissue to communicate. ECM comprises proteins such as fibronectin, collagen, laminin, etc. The most abundant protein in this space is collagen. Collagen fibers are interwoven with carbohydrate-containing protein molecules called proteoglycans. ECM allows cell migration and provides a structural scaffold at cell adhesion that anchors the cell when the extracellular matrix proteins interact with...
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The cadherins are a superfamily of cell adhesion molecules comprising over 180 variants, with specific tissues expressing a particular combination of cadherin types. Cadherins generally exhibit homophilic binding; i.e., cadherins on one cell bind to cadherins of the same or closely related type on another cell. Thus, cells of the same type have a specific affinity to bind to each other and sort themselves into clusters to form tissues.
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Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
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Genetic Mutations in Cell Junction Proteins Associated with Brain Calcification.

Dehao Yang1, Zihan Jiang2, Honghao Huang3

  • 1Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Movement Disorders : Official Journal of the Movement Disorder Society
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PubMed
Summary

Primary familial brain calcification (PFBC) involves brain calcium buildup. Genetic variants affecting cell junctions disrupt the blood-brain barrier, contributing to PFBC pathogenesis and offering new therapeutic targets.

Keywords:
adherens junctionsbrain calcificationcell junctionsgap junctionstight junctions

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Area of Science:

  • Neuroscience
  • Genetics
  • Cell Biology

Background:

  • Intracerebral calcium deposition, including primary familial brain calcification (PFBC), affects brain parenchyma and vasculature.
  • PFBC presents with motor decline, dysarthria, and cognitive impairment, lacking effective treatments.
  • Emerging evidence links blood-brain barrier (BBB) dysfunction and neurovascular unit (NVU) compromise to PFBC.

Purpose of the Study:

  • To review genetic variants in cell junction proteins associated with brain calcification.
  • To delineate potential molecular pathways involved in PFBC pathogenesis.
  • To investigate genotype-phenotype correlations in brain calcification.

Main Methods:

  • Literature review of studies on genetic variants in cell junction proteins and brain calcification.
  • Analysis of pathogenic mechanisms involving NVU disruption by PFBC-causative genes.
  • Examination of the role of various cell junctions (tight, gap, adherens, etc.) in maintaining NVU function.

Main Results:

  • Mutations in genes encoding cell junction proteins are implicated in the onset and progression of brain calcification.
  • Specific genes like PDGFRB, PDGFB, MYORG, and JAM2 contribute to PFBC through NVU disruption.
  • Cell junction integrity is crucial for BBB function and preventing pathological brain calcification.

Conclusions:

  • Cell junction dysfunction represents a key pathogenic mechanism in primary familial brain calcification.
  • Understanding these pathways supports molecular subtyping and the discovery of novel causative genes.
  • Targeting cell junction integrity may offer future therapeutic strategies for brain calcification disorders.