Dents Disease
- Date:
- 1946 - 2005
- Reference:
- PP/WRO/B/2
- Part of:
- Professor Oliver Wrong
- Archives and manuscripts
Collection contents
About this work
Description
This subseries consists of mainly reprints, notes related to publication, biographical data, pictures and X-Rays all related to Dent's Disease. Named after Dr. Wrong's mentor Charles Dent, who alongside M. Friedman first described the disease in 1964, Dent's Disease was identified more accurately and comprehensively by Dr. Wrong and Raj Thakker during the early 1990s. The items in this series are titled with their original labels unless otherwise noted.
Per Anthony Norden upon deposit:
'In 1964 Charles Dent and Max Friedman described two young patients with a similar clinical disease. At that time the cause was a mystery and neither patient was known to have a hereditary disease. Both had unusual proteins in their urine. Oliver Wrong and his colleagues later discovered that these two patients had forms of what Wrong baptised 'Dents Disease'. This was a description based on clinical and laboratory information as well as family studies but not molecular genetic data. Subsequent work by Raj Thakker and Steve Scheinman and their colleagues disclosed a fascinating duality. One of the original patients from 1964 had Dents Disease due to mutation in the gene for a molecule which allows chloride ions to flow through the cell membrane; that gene is termed 'CLCN5'. The other patient had a mutation is a completely separate gene affecting the metabolism of important signals in the cell called 'inositides'. That gene was 'OCRL1' . The two different molecular forms of Dents Disease were named, unsurprisingly, 'Dents1' and 'Dents2'. So, as found so often when molecular genetic techniques are applied to medicine, what appears to be the same condition clinically, may have quite different molecular genetic causes. This has major implications for our understanding of disease and future approaches to treatment. Tantalizingly, there are many other patients with what is 'clinical' Dents Disease who do not have mutations in either the CLCN5 or OCRL1 genes; it is quite likely that there is a Dents 3 disease waiting to be discovered.'
Per Anthony Norden upon deposit:
'In 1964 Charles Dent and Max Friedman described two young patients with a similar clinical disease. At that time the cause was a mystery and neither patient was known to have a hereditary disease. Both had unusual proteins in their urine. Oliver Wrong and his colleagues later discovered that these two patients had forms of what Wrong baptised 'Dents Disease'. This was a description based on clinical and laboratory information as well as family studies but not molecular genetic data. Subsequent work by Raj Thakker and Steve Scheinman and their colleagues disclosed a fascinating duality. One of the original patients from 1964 had Dents Disease due to mutation in the gene for a molecule which allows chloride ions to flow through the cell membrane; that gene is termed 'CLCN5'. The other patient had a mutation is a completely separate gene affecting the metabolism of important signals in the cell called 'inositides'. That gene was 'OCRL1' . The two different molecular forms of Dents Disease were named, unsurprisingly, 'Dents1' and 'Dents2'. So, as found so often when molecular genetic techniques are applied to medicine, what appears to be the same condition clinically, may have quite different molecular genetic causes. This has major implications for our understanding of disease and future approaches to treatment. Tantalizingly, there are many other patients with what is 'clinical' Dents Disease who do not have mutations in either the CLCN5 or OCRL1 genes; it is quite likely that there is a Dents 3 disease waiting to be discovered.'
Publication/Creation
1946 - 2005
Physical description
6 Items