SCN1A
Sodium channel protein type 1 subunit alpha (Sodium channel protein brain I subunit alpha) (Sodium channel protein type I subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.1) [NAC1] [SCN1]
Publications[править]
Previously reported MRS findings in the aging brain include lower N-acetylaspartate (NAA) and higher myo-inositol (mI), total creatine (Cr) and choline-containing compound (Cho) concentrations. Alterations in the sodium channel voltage gated type I, alpha subunit SCN1A variant rs10930201 have been reported to be associated with several neurological disorders with cognitive deficits. MRS studies in SCN1A-related diseases have reported striking differences in the mI concentrations between patients and controls. In a study on 'healthy aging', we investigated metabolite spectra in a sample of 83 healthy volunteers and determined their age dependence. We also investigated a potential link between SCN1A and mI. We observed a significantly negative association of NAA (p = 0.004) and significantly positive associations of mI (p ≤ 0.001), Cr (p ≤ 0.001) and Cho (p = 0.034) with age in frontal white matter. The linear association of Cho ends at the age of about 50 years and is followed by an inverted 'U'-shaped curve. Further, mI was higher in C allele carriers of the SCN1A variant rs10930201. Our results corroborated the age-related changes in metabolite concentrations, and found evidence for a link between SCN1A and frontal white matter mI in healthy subjects.
MeSH Terms
- Adult
- Aged
- Aged, 80 and over
- Aging
- Animals
- Brain
- Evidence-Based Medicine
- Female
- Gene Expression Regulation
- Genetic Association Studies
- Genetic Markers
- Humans
- Inositol
- Magnetic Resonance Spectroscopy
- Male
- Middle Aged
- NAV1.1 Voltage-Gated Sodium Channel
- Polymorphism, Single Nucleotide
- Risk Factors
- Tissue Distribution
- Young Adult
Keywords
- MRS
- SCN1A
- healthy aging
- myo-inositol
- white matter