Functional genetic variation in the serotonin 5-HTTLPR modulates brain damage in frontotemporal dementia

Neurobiol Aging. 2015 Jan;36(1):446-51. doi: 10.1016/j.neurobiolaging.2014.07.008. Epub 2014 Jul 15.

Abstract

In frontotemporal dementia (FTD), nonmodifiable (genetic background) and modifiable (cognitive reserve [CR]) factors might interact in affecting frontotemporal damage. Serotoninergic dysfunction has been suggested as a key factor in FTD pathogenesis. 5-HTTLPR polymorphism on SCLA4 gene modulates the serotoninergic transmission. To evaluate the impact of 5-HTTLPR polymorphism on regional cerebral blood flow (rCBF) and its possible interaction with CR, 76 FTD patients with a 5-HTTLPR genotyping were recruited. All subjects underwent neuropsychological assessment and single-photon emission computed tomography imaging. Reserve index (RI) was computed from educational and occupational attainments, as proxy measure of CR. 5-HTTLPR analysis evidenced 14 S/S, 24 L/L, and 38 S/L carriers. No neuropsychological/behavioral differences were present. At the same disease stage, L/L carriers have a greater bilateral frontal rCBF decrease. Patients with higher RI had greater damage in right frontal and temporal regions. The additive effect of 5-HTTLPR polymorphism and RI was characterized by greater frontal rCBF deficit. 5-HTTLPR and CR act together to counteract brain pathology in FTD. Further studies are warranted to test the serotonin role in monogenic forms of FTD.

Keywords: 5-HTTLPR; Cognitive reserve; Frontotemporal dementia; SLC6A4; SPECT; Serotonin; Statistical parametric mapping.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Brain / blood supply
  • Brain / pathology*
  • Cerebrovascular Circulation
  • Female
  • Frontotemporal Dementia / diagnosis
  • Frontotemporal Dementia / genetics*
  • Frontotemporal Dementia / pathology*
  • Humans
  • Male
  • Middle Aged
  • Neuropsychological Tests
  • Polymorphism, Genetic*
  • Serotonergic Neurons / physiology
  • Serotonin / physiology
  • Serotonin Plasma Membrane Transport Proteins / genetics*
  • Serotonin Plasma Membrane Transport Proteins / physiology*
  • Synaptic Transmission / genetics
  • Synaptic Transmission / physiology
  • Tomography, Emission-Computed, Single-Photon

Substances

  • SLC6A4 protein, human
  • Serotonin Plasma Membrane Transport Proteins
  • Serotonin