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SORL1 mutations in early- and late-onset Alzheimer disease

Cuccaro, Michael L., Carney, Regina M., Zhang, Yalun, Bohm, Christopher, Kunkle, Brian W., Vardarajan, Badri N., Whitehead, Patrice L., Cukier, Holly N., Mayeux, Richard, St. George-Hyslop, Peter, Pericak-Vance, Margaret A.·2016·Neurology Genetics
DOI 10.1212/nxg.0000000000000116PMC PMC5082932
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Figure 1 Pedigrees of the early-onset Alzheimer disease families and SORL1 protein diagram (A and B) Pedigrees of the early-onset Alzheimer disease (EOAD) families and SORL1 protein diagram. Affected individuals are solid black while those presenting with parkinsonian features are patterned. Below each individual number is either the age at onset (AAO, for affected individuals) or the age at last examination (AAE, for unaffected individuals). For family 191, the SORL1 variant is present in all affected individuals examined. In family 1240, the variant occurs in 3 of 4 cases evaluated. (C) Diagram of SORL1 protein (2214 total amino acids) indicating the location of principal domains and the variants identified in the EOAD families (T588I and T2134M) and the late-onset Alzheimer disease individuals (A528T and T947M). AD = Alzheimer disease; VPS10 = vesicular protein sorting 10 domain; CR = complement type repeat domains; EGF = epidermal growth factor; FNIII = fibronectin type III repeats; TM = transmembrane region; DLB = dementia with Lewy bodies; SORL1 = sortilin-related receptor.
Figure 1 Pedigrees of the early-onset Alzheimer disease families and SORL1 protein diagram (A and B) Pedigrees of the early-onset Alzheimer disease (EOAD) families and SORL1 protein diagram. Affected individuals are solid black while those presenting with parkinsonian features are patterned. Below each individual number is either the age at onset (AAO, for affected individuals) or the age at last examination (AAE, for unaffected individuals). For family 191, the SORL1 variant is present in all affected individuals examined. In family 1240, the variant occurs in 3 of 4 cases evaluated. (C) Diagram of SORL1 protein (2214 total amino acids) indicating the location of principal domains and the variants identified in the EOAD families (T588I and T2134M) and the late-onset Alzheimer disease individuals (A528T and T947M). AD = Alzheimer disease; VPS10 = vesicular protein sorting 10 domain; CR = complement type repeat domains; EGF = epidermal growth factor; FNIII = fibronectin type III repeats; TM = transmembrane region; DLB = dementia with Lewy bodies; SORL1 = sortilin-related receptor.CC BY-NC-ND · PubMed Central
Figure 2 SORL1 mutants' overexpression increases β-amyloid secretion (A–C) Secreted β-amyloid 40 (Aβ40), Aβ42, and amyloid precursor protein soluble β-secretase (APPsβ) were measured from culture medium in stable HEK293 cells expressing the APP Swedish mutant (HEKsw) together with either wild-type SORL1 or mutant SORL1. Error bars represent standard error of the mean (SEM). ***p < 0.001, *p < 0.05, ns, not significant, n = 3 independent replications. (D) Western blot was performed to detect APP soluble α-secretase (APPsα) from cultured media. Bar graphs were normalized to control. **p < 0.01, n = 3 independent replications, and error bars represent the SEM. Aβ = β-amyloid; FL-APP = full-length APP; SORL1 = sortilin-related receptor.
Figure 2 SORL1 mutants' overexpression increases β-amyloid secretion (A–C) Secreted β-amyloid 40 (Aβ40), Aβ42, and amyloid precursor protein soluble β-secretase (APPsβ) were measured from culture medium in stable HEK293 cells expressing the APP Swedish mutant (HEKsw) together with either wild-type SORL1 or mutant SORL1. Error bars represent standard error of the mean (SEM). ***p < 0.001, *p < 0.05, ns, not significant, n = 3 independent replications. (D) Western blot was performed to detect APP soluble α-secretase (APPsα) from cultured media. Bar graphs were normalized to control. **p < 0.01, n = 3 independent replications, and error bars represent the SEM. Aβ = β-amyloid; FL-APP = full-length APP; SORL1 = sortilin-related receptor.CC BY-NC-ND · PubMed Central
Figure 3 Both SORL1 mutants have a reduced binding affinity to APP SORL1 was immunoprecipitated from cell lysates with a c-MYC antibody, and the amount of coprecipitated full-length amyloid precursor protein (FL-APP) was measured by densitometry of the anti-APP immunoreactive bands on the Western blot of the SORL1 immunoprecipitation products. *p < 0.05, **p < 0.01, n = 3 replications, and error bars represent the SEM. IgG = immunoglobulin G; IP = immunoprecipitated; SORL1 = sortilin-related receptor.
Figure 3 Both SORL1 mutants have a reduced binding affinity to APP SORL1 was immunoprecipitated from cell lysates with a c-MYC antibody, and the amount of coprecipitated full-length amyloid precursor protein (FL-APP) was measured by densitometry of the anti-APP immunoreactive bands on the Western blot of the SORL1 immunoprecipitation products. *p < 0.05, **p < 0.01, n = 3 replications, and error bars represent the SEM. IgG = immunoglobulin G; IP = immunoprecipitated; SORL1 = sortilin-related receptor.CC BY-NC-ND · PubMed Central

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Metadata

Authors
Cuccaro, M. L., Carney, R. M., Zhang, Y., Bohm, C., Kunkle, B. W., Vardarajan, B. N., Whitehead, P. L., Cukier, H. N., Mayeux, R., St. George-Hyslop, P., & Pericak-Vance, M. A.
Affiliations
From the John P. Hussman Institute for Human Genomics (M.L.C., R.M.C., B.W.K., P.L.W., H.N.C., M.A.P.-V.), University of Miami Miller School of Medicine, FL; Mental Health &amp; Behavioral Science Service (R.M.C.), Bruce W. Carter VA Medical Center, Miami, FL; The Taub Institute for Research on Alzheimer's Disease and the Aging Brain (B.N.V., R.M.), Gertrude H. Sergievsky Center, Departments of Neurology, Psychiatry, and Epidemiology, College of Physicians and Surgeons, Columbia University, New York...
Venue
Neurology Genetics
Publisher
Ovid Technologies (Wolters Kluwer Health)
Published
2016-12
Volume
2
Issue
6
ISSN
2376-7839
DOI
10.1212/nxg.0000000000000116
PMC
PMC5082932
Cited by
77
References
6
Language
en

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