Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary condition with onset in mid- adulthood and is associated with mutations in the Notch-3 gene. (Joutel, A., Corepechot, C., Ducros, A., Vahedi, K., Chabriat, H., Mouton, P., Alamowitch, S., Domenda, V., Cecilion, M., Marechal, J., Vayssiere, C., Cruaud, C., Cabanis, E.A., Ruchoux, M.M., Weissenvach, J., Bach, J.F., Bousser, M.G. and Tournier-Lasserve, E., Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature, 383 (1996) 707-710) Ultrastructural examination of the pathology of the cerebral infarcts reveals deposits in the vascular smooth muscle cells of the small arteries of the brain, but there is no obvious indication how the Notch-3 mutations give rise the observed pathology, nor is there any information on the exact nature of the deposits. We have investigated cerebrospinal fluid (CSF) from three CADASIL cases with known mutations in Notch-3 using two-dimensional gel electrophoresis. CSF from these patients was compared to that of six controls. We detected a single spot in the protein maps of patients which was absent from all the controls. In-gel tryptic digestion of this protein followed by mass spectrometric analysis of the tryptic fragments and a database search identified the spot as human complement factor B. These preliminary findings suggest that the alternative complement pathway may play a role in the pathogenesis of CADASIL. (C) 2000 Published by Elsevier Science Ireland Ltd.
| Original language | English |
|---|---|
| Pages (from-to) | 149-152 |
| Number of pages | 4 |
| Journal | Neuroscience Letters |
| Volume | 282 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - 24 Mar 2000 |
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Keywords
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Cerebrospinal fluid
- Complement factor B
- Mass spectrometry
- Two-dimensional gel electrophoresis
ASJC Scopus subject areas
- Neuroscience(all)
Cite this
Detection of complement factor B in the cerebrospinal fluid of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy disease using two-dimensional gel electrophoresis and mass spectrometry. / Ünlü, Mustafa; De Lange, Robert P.J.; De Silva, Rajith; Kalaria, Raj; St. Clair, David.
In: Neuroscience Letters, Vol. 282, No. 3, 24.03.2000, p. 149-152.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Detection of complement factor B in the cerebrospinal fluid of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy disease using two-dimensional gel electrophoresis and mass spectrometry
AU - Ünlü, Mustafa
AU - De Lange, Robert P.J.
AU - De Silva, Rajith
AU - Kalaria, Raj
AU - St. Clair, David
N1 - We would like to thank Dr Jim McKenzie of Aberdeen University and Professor Martin N. Rossor and Dr John C. Janssen of the Dementia Research Group, Institute of Neurology, London for access to some of the control CSF samples. This work was supported by grants from Smith Charities and the Davidson Bequest.
PY - 2000/3/24
Y1 - 2000/3/24
N2 - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary condition with onset in mid- adulthood and is associated with mutations in the Notch-3 gene. (Joutel, A., Corepechot, C., Ducros, A., Vahedi, K., Chabriat, H., Mouton, P., Alamowitch, S., Domenda, V., Cecilion, M., Marechal, J., Vayssiere, C., Cruaud, C., Cabanis, E.A., Ruchoux, M.M., Weissenvach, J., Bach, J.F., Bousser, M.G. and Tournier-Lasserve, E., Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature, 383 (1996) 707-710) Ultrastructural examination of the pathology of the cerebral infarcts reveals deposits in the vascular smooth muscle cells of the small arteries of the brain, but there is no obvious indication how the Notch-3 mutations give rise the observed pathology, nor is there any information on the exact nature of the deposits. We have investigated cerebrospinal fluid (CSF) from three CADASIL cases with known mutations in Notch-3 using two-dimensional gel electrophoresis. CSF from these patients was compared to that of six controls. We detected a single spot in the protein maps of patients which was absent from all the controls. In-gel tryptic digestion of this protein followed by mass spectrometric analysis of the tryptic fragments and a database search identified the spot as human complement factor B. These preliminary findings suggest that the alternative complement pathway may play a role in the pathogenesis of CADASIL. (C) 2000 Published by Elsevier Science Ireland Ltd.
AB - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary condition with onset in mid- adulthood and is associated with mutations in the Notch-3 gene. (Joutel, A., Corepechot, C., Ducros, A., Vahedi, K., Chabriat, H., Mouton, P., Alamowitch, S., Domenda, V., Cecilion, M., Marechal, J., Vayssiere, C., Cruaud, C., Cabanis, E.A., Ruchoux, M.M., Weissenvach, J., Bach, J.F., Bousser, M.G. and Tournier-Lasserve, E., Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature, 383 (1996) 707-710) Ultrastructural examination of the pathology of the cerebral infarcts reveals deposits in the vascular smooth muscle cells of the small arteries of the brain, but there is no obvious indication how the Notch-3 mutations give rise the observed pathology, nor is there any information on the exact nature of the deposits. We have investigated cerebrospinal fluid (CSF) from three CADASIL cases with known mutations in Notch-3 using two-dimensional gel electrophoresis. CSF from these patients was compared to that of six controls. We detected a single spot in the protein maps of patients which was absent from all the controls. In-gel tryptic digestion of this protein followed by mass spectrometric analysis of the tryptic fragments and a database search identified the spot as human complement factor B. These preliminary findings suggest that the alternative complement pathway may play a role in the pathogenesis of CADASIL. (C) 2000 Published by Elsevier Science Ireland Ltd.
KW - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
KW - Cerebrospinal fluid
KW - Complement factor B
KW - Mass spectrometry
KW - Two-dimensional gel electrophoresis
UR - http://www.scopus.com/inward/record.url?scp=0342470661&partnerID=8YFLogxK
U2 - 10.1016/S0304-3940(00)00875-2
DO - 10.1016/S0304-3940(00)00875-2
M3 - Article
VL - 282
SP - 149
EP - 152
JO - Neuroscience Letters
JF - Neuroscience Letters
SN - 0304-3940
IS - 3
ER -