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Levels of cerebrospinal fluid neurofilament light protein in healthy elderly vary as a function of TOMM40 variants.

Publication ,  Journal Article
Bruno, D; Pomara, N; Nierenberg, J; Ritchie, JC; Lutz, MW; Zetterberg, H; Blennow, K
Published in: Exp Gerontol
May 2012

Neurofilament light (NFL) proteins in cerebrospinal fluid (CSF) are a marker of neuronal damage, especially subcortical axonal injury and white matter disease. Subjects with Alzheimer's disease (AD) have shown elevated levels of CSF NFL as compared to controls. However, the presence of the APOE ε4 allele, an established risk factor for AD, was not found to associate with higher CSF NFL concentrations. We examined whether TOMM40 variants, which have been reported to influence age of onset of AD and are in linkage disequilibrium with APOE, have an effect on CSF NFL levels, in 47 healthy, cognitively intact individuals with or without APOE ε4. Our results show that the presence of APOE ε4 alone does not affect CSF NFL levels significantly; however APOE and TOMM40 appear to interact. Subjects with APOE ε4 have higher CSF NFL levels than non-ε4 carriers, only when they do not carry a short poly-T variant of TOMM40, which is associated with later age of onset of AD, and may act as protective against the dose effect of ε4.

Duke Scholars

Published In

Exp Gerontol

DOI

EISSN

1873-6815

Publication Date

May 2012

Volume

47

Issue

5

Start / End Page

347 / 352

Location

England

Related Subject Headings

  • Neurofilament Proteins
  • Mitochondrial Precursor Protein Import Complex Proteins
  • Memory
  • Membrane Transport Proteins
  • Male
  • Linkage Disequilibrium
  • Hydrocortisone
  • Humans
  • Gerontology
  • Genotype
 

Citation

APA
Chicago
ICMJE
MLA
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Bruno, D., Pomara, N., Nierenberg, J., Ritchie, J. C., Lutz, M. W., Zetterberg, H., & Blennow, K. (2012). Levels of cerebrospinal fluid neurofilament light protein in healthy elderly vary as a function of TOMM40 variants. Exp Gerontol, 47(5), 347–352. https://doi.org/10.1016/j.exger.2011.09.008
Bruno, Davide, Nunzio Pomara, Jay Nierenberg, James C. Ritchie, Michael W. Lutz, Henrik Zetterberg, and Kaj Blennow. “Levels of cerebrospinal fluid neurofilament light protein in healthy elderly vary as a function of TOMM40 variants.Exp Gerontol 47, no. 5 (May 2012): 347–52. https://doi.org/10.1016/j.exger.2011.09.008.
Bruno D, Pomara N, Nierenberg J, Ritchie JC, Lutz MW, Zetterberg H, et al. Levels of cerebrospinal fluid neurofilament light protein in healthy elderly vary as a function of TOMM40 variants. Exp Gerontol. 2012 May;47(5):347–52.
Bruno, Davide, et al. “Levels of cerebrospinal fluid neurofilament light protein in healthy elderly vary as a function of TOMM40 variants.Exp Gerontol, vol. 47, no. 5, May 2012, pp. 347–52. Pubmed, doi:10.1016/j.exger.2011.09.008.
Bruno D, Pomara N, Nierenberg J, Ritchie JC, Lutz MW, Zetterberg H, Blennow K. Levels of cerebrospinal fluid neurofilament light protein in healthy elderly vary as a function of TOMM40 variants. Exp Gerontol. 2012 May;47(5):347–352.
Journal cover image

Published In

Exp Gerontol

DOI

EISSN

1873-6815

Publication Date

May 2012

Volume

47

Issue

5

Start / End Page

347 / 352

Location

England

Related Subject Headings

  • Neurofilament Proteins
  • Mitochondrial Precursor Protein Import Complex Proteins
  • Memory
  • Membrane Transport Proteins
  • Male
  • Linkage Disequilibrium
  • Hydrocortisone
  • Humans
  • Gerontology
  • Genotype