PubMed · 13122394
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J K BERMAN. 1954. Aneurysms.. https://pubmed.ncbi.nlm.nih.gov/13122394/
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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.
The case of a 13-month-old boy with fibromuscular dysplasia (FMD) presenting with a large saccular aneurysm of the left renal artery and renovascular hypertension is reported. Renal and intrarenal arteries showed numerous small aneurysms alternating with stenoses. All arterial lesions were localized to the left kidney. After left nephrectomy, the patient's blood pressure normalized. Histopathologic examination of the arteries disclosed changes typical of medial fibroplasias, the most frequently described form of FMD in children. This diagnosis is rewarding as it represents a surgically curable cause of severe hypertension.
UNLABELLED: DIAGNOSIS OF BRAIN VASCULAR MALFORMATIONS IN THE FETUS: Vein of Galen aneurysms can be diagnosed in utero. Other malformations are not seen. Ultrasound makes the diagnosis by showing a "cystic" structure in the posterior fossa. Colour Doppler shows the high flow. PROGNOSIS: The prognosis can be established by MRI. Bad prognosis factors are brain atrophy, cardiac insufficiency and complexity of the malformation. If these factors are absent, postnatal treatment by embolisation can be scheduled.