MAPO1

Last week I wrote about the possible contribution to renal tumourigenesis posed by inactivation (or deregulation) of DNA repair enzymes. Following on from that theme I found a paper by Komori et al, 2009* in Oncogene entitled ‘A novel protein, MAPO1, that functions in apoptosis triggered by O6-methylguanine mispair in DNA’. In it, the authors … Read more

The role of DNA repair enzymes in BHD associated renal tumourigenesis?

The focus of scientific research into BHD Syndrome should centre on elucidating the biological role of folliculin (FLCN) within the cell, but a recent paper in the European Journal of Cancer has brought the topic of DNA repair enzymes into light. The multi-step model for tumourigenesis proposes that the tumourigenic growth of malignant cells from … Read more

The application of Proteomics to BHD research?

Genomic and clinical studies make up the majority of published research into BHD Syndrome. Proteomics is the large scale analysis of proteins (or the ‘proteome’) and can be used to identify differential transcription of proteins and their biological activity. There are currently no proteomic based studies being performed in the field of BHD research.Would its … Read more

Overlap between TAZ and FLCN?

Makita et al, 2008 determined that TAZ is essential for developmental mechanisms involved in renal and pulmonary organogenesis and that its dysfunction may be a pathogenic mechanism in common human disease. Inactivation of TAZ in mice resulted in pathological changes in the kidney and lung that resemble the common human diseases polycystic kidney disease and … Read more

How do you say ‘Birt-Hogg-Dube’ in French?

Eagle eyed visitors will by now have seen that we are currently utilising the Google Translate service to translate www.BHDsyndrome.org into several languages. At the moment, the site can be converted into French, Spanish, Dutch, German, Greek, Chinese and Japanese by clicking on the respective flag on the home page. The site will open up … Read more