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J Alzheimers Dis. 2019;72(1):127-137. doi: 10.3233/JAD-190132.

Low Serum High-Density Lipoprotein Cholesterol Levels Associate with the C9orf72 Repeat Expansion in Frontotemporal Lobar Degeneration Patients.

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Institute of Clinical Medicine-Neurology, University of Eastern Finland, Kuopio, Finland.
Neuro Center, Kuopio University Hospital, Kuopio, Finland.
Institute of Clinical Medicine - Neurosurgery, University of Eastern Finland, Kuopio, Finland.
NMR Metabolomics Laboratory, School of Pharmacy, University of Eastern Finland, Kuopio, Finland.
Computational Medicine, Faculty of Medicine, University of Oulu and Biocenter Oulu, Oulu, Finland.
Institute of Biomedicine, University of Eastern Finland, Kuopio, Finland.
Medical Research Council Integrative Epidemiology Unit at the University of Bristol, Bristol, UK.
Population Health Science, Bristol Medical School, University of Bristol, Bristol, UK.
Systems Epidemiology, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia.
Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine, Faculty of Medicine, Nursing and Health Sciences, The Alfred Hospital, Monash University, Melbourne, VIC, Australia.
A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland.
Medical Research Center, Oulu University Hospital, Oulu, Finland.
Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland.


 Decreased levels of serum high-density lipoprotein (HDL) cholesterol have previously been linked to systemic inflammation and neurodegenerative diseases, such as Alzheimer's disease. Here, we aimed to analyze the lipoprotein profile and inflammatory indicators, the high-sensitivity C-reactive peptide (hs-CRP) and glycoprotein acetyls (GlycA), in sporadic and C9orf72 repeat expansion-associated frontotemporal lobar degeneration (FTLD) patients. The C9orf72 hexanucleotide repeat expansion is the most frequent genetic etiology underlying FTLD. The concentrations of different lipid measures in the sera of 67 FTLD patients (15 C9orf72 repeat expansion carriers), including GlycA, were analyzed by nuclear magnetic resonance spectroscopy. To verify the state of systemic inflammation, hs-CRP was also quantified from patient sera. We found that the total serum HDL concentration was decreased in C9orf72 repeat expansion carriers when compared to non-carriers. Moreover, decreased concentrations of HDL particles of different sizes and subclass were consistently observed. No differences were detected in the very low- and low-density lipoprotein subclasses between the C9orf72 repeat expansion carriers and non-carriers. Furthermore, hs-CRP and GlycA levels did not differ between the C9orf72 repeat expansion carriers and non-carriers. In conclusion, the HDL-related changes were linked with C9orf72 repeat expansion associated FTLD but were not seen to associate with systemic inflammation. The underlying reason for the HDL changes remains unclear.


C9orf72 protein; cholesterol; frontotemporal lobar degeneration; frontotemporal dementia; inflammation; lipoproteins

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