Ultrastructural analysis of small blood vessels in skin biopsies in CADASIL
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small- and medium-artery disease of the brain caused by mutation of the Notch3 gene. Very often, this disease is misdiagnosed. We examined skin biopsies in two members of the first di...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
University of Belgrade, University of Novi Sad
2008-01-01
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| Series: | Archives of Biological Sciences |
| Subjects: | |
| Online Access: | http://www.doiserbia.nb.rs/img/doi/0354-4664/2008/0354-46640804573L.pdf |
| _version_ | 1818788587719622656 |
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| author | Lačković Vesna Bajčetič M. Šternić Nadežda Kostić V. Zidverc Jasna Pavlović Aleksandra Lačković Maja Kočica Mladen |
| author_facet | Lačković Vesna Bajčetič M. Šternić Nadežda Kostić V. Zidverc Jasna Pavlović Aleksandra Lačković Maja Kočica Mladen |
| author_sort | Lačković Vesna |
| collection | DOAJ |
| description | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small- and medium-artery disease of the brain caused by mutation of the Notch3 gene. Very often, this disease is misdiagnosed. We examined skin biopsies in two members of the first discovered Serbian family affected by CADASIL. Electron microscopy showed that skin blood vessels of both patients contain numerous deposits of granular osmiophilic material (GOM) around vascular smooth muscle cells (VSMCs). We observed degeneration of VSMCs, reorganization of their cytoskeleton and dense bodies, disruption of myoendothelial contacts, and apoptosis. Our results suggest that the presence of GOM in small skin arteries represents a specific marker in diagnosis of CADASIL. |
| first_indexed | 2024-12-18T14:26:03Z |
| format | Article |
| id | doaj.art-00727a3c629943fc967a9da77dc44730 |
| institution | Directory Open Access Journal |
| issn | 0354-4664 |
| language | English |
| last_indexed | 2024-12-18T14:26:03Z |
| publishDate | 2008-01-01 |
| publisher | University of Belgrade, University of Novi Sad |
| record_format | Article |
| series | Archives of Biological Sciences |
| spelling | doaj.art-00727a3c629943fc967a9da77dc447302022-12-21T21:04:43ZengUniversity of Belgrade, University of Novi SadArchives of Biological Sciences0354-46642008-01-0160457358010.2298/ABS0804573LUltrastructural analysis of small blood vessels in skin biopsies in CADASILLačković VesnaBajčetič M.Šternić NadeždaKostić V.Zidverc JasnaPavlović AleksandraLačković MajaKočica MladenCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small- and medium-artery disease of the brain caused by mutation of the Notch3 gene. Very often, this disease is misdiagnosed. We examined skin biopsies in two members of the first discovered Serbian family affected by CADASIL. Electron microscopy showed that skin blood vessels of both patients contain numerous deposits of granular osmiophilic material (GOM) around vascular smooth muscle cells (VSMCs). We observed degeneration of VSMCs, reorganization of their cytoskeleton and dense bodies, disruption of myoendothelial contacts, and apoptosis. Our results suggest that the presence of GOM in small skin arteries represents a specific marker in diagnosis of CADASIL.http://www.doiserbia.nb.rs/img/doi/0354-4664/2008/0354-46640804573L.pdfCADASILGOMskin biopsydermal blood vesselultrastructuremyoendothelial contactsapoptosis |
| spellingShingle | Lačković Vesna Bajčetič M. Šternić Nadežda Kostić V. Zidverc Jasna Pavlović Aleksandra Lačković Maja Kočica Mladen Ultrastructural analysis of small blood vessels in skin biopsies in CADASIL Archives of Biological Sciences CADASIL GOM skin biopsy dermal blood vessel ultrastructure myoendothelial contacts apoptosis |
| title | Ultrastructural analysis of small blood vessels in skin biopsies in CADASIL |
| title_full | Ultrastructural analysis of small blood vessels in skin biopsies in CADASIL |
| title_fullStr | Ultrastructural analysis of small blood vessels in skin biopsies in CADASIL |
| title_full_unstemmed | Ultrastructural analysis of small blood vessels in skin biopsies in CADASIL |
| title_short | Ultrastructural analysis of small blood vessels in skin biopsies in CADASIL |
| title_sort | ultrastructural analysis of small blood vessels in skin biopsies in cadasil |
| topic | CADASIL GOM skin biopsy dermal blood vessel ultrastructure myoendothelial contacts apoptosis |
| url | http://www.doiserbia.nb.rs/img/doi/0354-4664/2008/0354-46640804573L.pdf |
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