Literature Database Updated

The BHD literature database has been updated with 3 papers: Bradley et al. (2014) investigated the hypothesis that the variety of symptoms seen in BHD patients could be due to susceptibility to the infection by the human papillomavirus (HPV) or human polyomavirus (HpyV). These viruses have previously been associated with skin lesions or are potentially latent in the kidneys. However, all the examined samples were negative for viral DNA leading to the conclusion that HPV and HpyVs do not contribute to BHD pathology.

Reyes et al. (2014) used a Fnip1 null mouse model to determine the role of Fnip1 in mammalian skeletal muscle specification. Fnip1 is known to interact with the BHD protein folliculin (FLCN) as well as with the AMP kinase (AMPK). This study reported that the loss of Fnip1 resulted in increased numbers of Type 1 muscle fibres, increased AMPK activation and increased expression of the AMPK-target and coactivator PGC1α. Further work is required to fully understand the role of Fnip1 in muscle development and specification.

Guda et al. 2015 report on the characterisation of mutations in colorectal cancer (CRC) samples from African American patients. 15 new genes were found to be significantly more likely to be mutated in African Americans than Caucasians. One of these genes was the BHD-associated FLCN gene with mutations in this gene only being found in CRC samples from African Americans. The authors conclude that FLCN may, as a tumour suppressor, be a driving gene for CRC which is preferentially targeted in African Americans.

(This paper also states that BHD is characterised by the development of medullary thyroid carcinomas; whilst cases of these carcinomas have been reported in BHD patients there is no definitive link between the two.)

To find out more, the latest version of the database is available to download here.

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