The heritability of brain metabolites on proton magnetic resonance spectroscopy in older individuals

Seyed Amir Hossein Batouli*, Perminder S. Sachdev, Wei Wen, Margaret J. Wright, Chao Suo, David Ames, Julian N. Trollor

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

22 Citations (Scopus)


Twin studies have shown that many aspects of brain structure are heritable, suggesting a strong genetic contribution to brain structure. Less is known about functional aspects of the brain, in particular biologically relevant metabolites in the brain such as those measured by proton magnetic resonance spectroscopy ( 1H MRS), N-acetyl-aspartate (NAA), creatine (Cr), choline (Cho) and myoinositol (ml), which have been suggested as possible markers of brain aging and early dementia. We examined 296 (56 male/108 female monozygotic and 43 male/89 female dizygotic) older twins (mean age 72.2±5.5years, range 65-88), for the levels of these metabolites relative to the H 2O signal in the posterior cingulate cortex using 1H MRS. All metabolites showed substantial heritability, which was greatest for the neuronal integrity marker NAA (72%), and less so for the others - Cr (51%), Cho (33%) and ml (55%). The heritability of these markers did not change significantly with age or sex. The genetic determination of NAA, along with the evidence that NAA levels change in aging and neurodegenerative diseases suggest that it is a potential endophenotype of brain aging and dementia.

Original languageEnglish
Pages (from-to)281-289
Number of pages9
Issue number1
Publication statusPublished - 1 Aug 2012
Externally publishedYes


  • Aging
  • Dementia
  • Heritability
  • Magnetic resonance spectroscopy
  • N-Acetyl-Aspartate
  • Twin study


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