Genetic differences in young individuals with early amyloid or NFT-pathology

Ghebremedhin, Estifanos, Thal, Dietmar R. and Braak, Heiko (2004). Genetic differences in young individuals with early amyloid or NFT-pathology. In: Neurobiology of Aging. Abstracts from the 9th International Conference on Alzheimer's Disease and Related Disorders. 9th International Conference on Alzheimers Disease and Related Disorders, Philadelphia, Pennsylvania, U.S.A., (S487-S487). 17-22 July 2004. doi:10.1016/S0197-4580(04)81607-5


Author Ghebremedhin, Estifanos
Thal, Dietmar R.
Braak, Heiko
Title of paper Genetic differences in young individuals with early amyloid or NFT-pathology
Conference name 9th International Conference on Alzheimers Disease and Related Disorders
Conference location Philadelphia, Pennsylvania, U.S.A.
Conference dates 17-22 July 2004
Proceedings title Neurobiology of Aging. Abstracts from the 9th International Conference on Alzheimer's Disease and Related Disorders   Check publisher's open access policy
Journal name Neurobiology of Aging   Check publisher's open access policy
Place of Publication Oxford, U.K
Publisher Elsevier Inc.
Publication Year 2004
Sub-type Poster
DOI 10.1016/S0197-4580(04)81607-5
Open Access Status Not Open Access
ISSN 0197-4580
1558-1497
Volume 25
Issue Supplement 2
Start page S487
End page S487
Total pages 1
Language eng
Abstract/Summary Background: Alzheimer's disease (AD) is histopathologically characterized by the presence of extracellular amyloid ~-protein (A[3) and intracellular neurofibrillary tangles (NFT). These hallmark pathological changes are early events that probably occur many years prior to clinical signs of AD. Whether NFT pathology precedes amyloid deposition or vice versa is still a matter of debate. It is also possible that A~ and NFI" occur independently, indicating a difference with respect to pathophysiology, rates of progression, and genetic backgrotmd, Objective(s): The study aims to examine the neuropathological features of different subgroups of young individuals (age < 50 years) with regard to AD-related neuropathology and to identify genetic risk profiles useful in their delineation. Methods: More than 1,000 brains of non-selected consecutive autopsy cases (age range 21-49 years; mean and SD: 38 • 6.3 years) were assessed for AD-related neuropathology. Initial A[3 pathology without significant NFT pathology was apparent in 6% of all cases. Another 25% of the cases displayed NFT pathology devoid of AI3 pathology. The remaining vast majority was exempt from any AD pathology. In the present study, 245 cases were included (97 cases with NFT-only pathology, 21 cases with A~3-only pathology, and 127 age- and gender-matched controls without AD pathology). Polymorphisms of ApoE, A2M-D/I, A2M-GI000A, BCHE-K, IL-1A (-889), IL-1B (-511), IL-1B (+3954), and LRP-C766T were determined for each case. Results: Genotype frequencies [ApoE, BCHE-K, IL-1A (-889), IL-1B (+3954)] of the cases with NFT-only pathology differed significantly from those of the controls. Significant differences in genotype frequencies [ApoE, A2M-D/I, IL-1B (+3954)] were also apparent in cases with A[3-only pathology as compared to controls. Further analysis showed that cases with NFT-only pathology significantly differed from cases with AI3-only pathology in genetic background [ApoE, A2M-G1000A, BCHE-K, IL-1B (+3954)]. Conclusions: The present study, thus, reveals two subgroups of young individuals with different underlying nenropathology and genetic profiles. Therefore, the neuropathological phenotypes may strongly depend on genetic background that alters the neuropathological pattern of AD-related lesions, even in their earliest development.
Subjects 1103 Clinical Sciences
1109 Neurosciences
Q-Index Code EX
Q-Index Status Provisional Code
Institutional Status Unknown
Additional Notes Poster number: P4-049

 
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Created: Wed, 03 Mar 2010, 23:52:28 EST by Laura McTaggart on behalf of Faculty of Science