{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T10:51:32Z","timestamp":1782211892925,"version":"3.54.5"},"reference-count":38,"publisher":"Termedia Sp. z.o.o.","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pol J Pathol"],"abstract":"<jats:p>We performed ultrastructural studies of\u00a0mitochondria and evaluated the\u00a0appearance of\u00a0small blood vessels of\u00a0three middle-aged siblings affected by the\u00a0same mutation in the\u00a0NOTCH3 gene, causing CADASIL. CADASIL pathognomonic features include granular osmiophilic material (GOM), which we observed. GOMs were located in damaged and thickened basement membranes (BM) of\u00a0capillaries and arterioles. Our patients were also burdened by type II diabetes (first patient), impaired glucose metabolism (second patient), and hypertension (third patient). The\u00a0ultrastructure of\u00a0the\u00a0capillaries in the\u00a0first and second patients differed from the\u00a0third patient. In diabetes\/impaired glucose metabolism patients (first and second patients), we observed: pathologies of\u00a0mitochondria in damaged endothelium and pericytes of\u00a0capillaries; extremely thickened (BM) with visible remains of\u00a0vascular cells; well-preserved GOMs anchored in the\u00a0rebuilt capillary extracellular matrix. We identified degenerated or vestigial small blood vessels of\u00a0skeletal muscles in the\u00a0first patient. The\u00a0capillary damage in the\u00a0third patient (with hypertension) was milder compared to the\u00a0diabetes\/impaired glucose metabolism patients. We conclude that in patients with a\u00a0mutation in the\u00a0NOTCH3 gene, the\u00a0co-occurrence of\u00a0diseases such as type II diabetes\/impaired glucose metabolism can cause a\u00a0multiplication the\u00a0damages to small blood vessels by modifying\/masking the\u00a0pathogenesis of\u00a0CADASIL.<\/jats:p>","DOI":"10.5114\/pjp.2021.109517","type":"journal-article","created":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T13:16:41Z","timestamp":1776691001000},"page":"148-159","source":"Crossref","is-referenced-by-count":0,"title":["Ultrastructure of mitochondria and damage to small blood vessels in siblings with the same mutation in the NOTCH 3 and coexisting diseases"],"prefix":"10.5114","volume":"72","author":[{"given":"Paulina","family":"Felczak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnieszka","family":"Cudna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beata","family":"B\u0142a\u017cejewska-Hy\u017corek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Buczek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iwona","family":"Kurkowska-Jastrz\u0119bska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomasz","family":"St\u0119pie\u0144","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"Acewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Wierzba-Bobrowicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3061","published-online":{"date-parts":[[2021,9,30]]},"reference":[{"key":"ref-1694790","doi-asserted-by":"crossref","unstructured":"Wallace DC. 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