PubMed · 4938643
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F D Loop. 1971. Ventricular aneurysmectomy.. https://doi.org/10.1016/s0039-6109(16)39533-0
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Claudin-14 (CLDN14) is a key component of tight junctions (TJs) critical for maintaining paracellular barrier function. Variants of CLDN14 have been linked to Vein of Galen malformations (VOGMs), a rare cerebrovascular disorder; however, the molecular mechanisms underlying their pathogenicity remain unknown. Here, we investigate the mechanistic effects of two VOGM-associated mutations, A113P and V143M, using reinforcement-learning driven enhanced sampling molecular dynamics simulations combined with DiffNets-based deep learning and independent trajectory-wide structural analyses. Our analysis reveals that A113P induces broader structural disruption of CLDN14, perturbing paracellular sealing, pore symmetry, and inter-protomer communication, whereas V143M induces structural rearrangements centred around TM3 and the TM3-ECL2 region. In both cases, mutation-specific alterations are observed in structural stability and interfacial organization across oligomeric assemblies. Notably, these effects are qualitatively consistent across different modelled architectures, despite variability in local responses. In the absence of experimentally resolved structures, the structural perturbations reported here provide a mechanistic understanding of how VOGM-associated variants may influence CLDN14 structure and dynamics.
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BACKGROUND: Ehlers Danlos syndrome (type IV) and kidney and liver cyst disease can present a common factor: anomalous biosynthesis of structural collagen and elastic tissue. We present an exceptional case. CASE REPORT: A 62-year-old man complained of pain in the upper left quadrant of the abdomen. Ultrasonography, magnetic resonance imaging and arteriography evidenced an aneurysm of the splenic artery, an aneurysm of the hypogastric artery, multiple cysts in the kidney and liver, and mitral valvulopathy. Treatment was splenectomy with resection of the splenic aneurysm and resection of the iliac aneurysm and iliac-iliac bypass. DISCUSSION: The association of kidney and liver cyst disease with venous gastrointestinal and cardiovascular complications is well known. The simultaneous presence of cysts and peripheral and visceral aneurysms with anomalies of the arterial wall resembling Ehlers Danlos syndrome (type IV) would suggest that these two diseases might result from a common connective tissue anomaly. The underlying mechanism(s) remain unknown.