Principal Investigator: Dr Volkhard Lindner
Department: Maine Medical Centre Research Institute
Maine Medical Center Research Institute, Center for Molecular Medicine, 81
Research Drive, Scarborough, Massachusetts, 04074, United States
We discovered that Cthrc1 is novel hormone made by the pituitary gland
(Stohn et al. PlosOne 2012). Studies in mice showed that absence of Cthrc1
causes fatty liver formation, reduced grip strength and reduced bone density.
Having established a sensitive assay, we found that Cthrc1 plasma levels in
healthy subjects are very low with the exception of subjects with red hair
(melanocortin receptor-1 variants) who had up to several hundred fold higher
levels. Therefore, we are very interested how hair colour and melanocortin
receptor-1 genotype (when available) correlates with grip strength, bone
density, vascular disease, diabetes and steatosis.
The frequency of mutant melanocortin receptor-1 alleles in northern European
countries such as the UK are estimated to be 50%. It is established that
subjects with red hair and associated non-tanning skin are more likely to
develop skin cancer, yet the mutant allele does not appear to be under
selective pressure in these countries. If we find positive correlations between
red hair (and assumed elevated Cthrc1 blood levels) and increased bone
density, grip strength and resistance to fatty liver formation, future therapies
can be developed to treat osteoporosis, muscle weakness and liver disease.
The database will be mined for correlations between red hair, non- or poorly
tanning skin versus darker, easily tanning skin with respect to osteoporosis, bone mineral density (heel BMD), bone fractures, hand grip strength,
atherosclerosis, vascular disease, alcoholic liver disease and fatty liver. In
addition, we would be very interested in obtaining information on the
melanocortin receptor-1 genotype when it becomes available (July 2015?). The
latter will predict to what degree signalling via the melanocortin receptor-1 is
We would like to include the full cohort for analysis.