19 February 2013
The Badalona mutation discovered by IMPPC researchers
A novel mutation causing causing hereditary hyperferritinemia with cataracts syndrome (HHCS)
The unit for advanced genetic diagnosis for rare iron metabolism diseases (UDGAEMH) in the Institute of Predictive and Personalized Medicine of Cancer (IMPPC) led by Dr. Mayka Sanchez has discovered a new mutation, the Badalona mutation, causing hereditary hyperferritinemia with cataracts syndrome (HHCS) in a Spanish family. This new mutation, along with previously discovered mutations, can be identified by genetic testing and allow the disease to be correctly diagnosed. Sometimes cases of HHCS have been confused with another genetic disease, Hereditary Hemochromatosis, which leads to the wrong treament being given to patients.
Hereditary hyperferritinemia with cataracts syndrome (HHCS) is a rare genetic disease in which ferritin levels in the blood are very high and people who have it develop cataracts at an early age (before 30). The disease requires a precise clinical and genetic diagnosis to proceed with correct treatment, since in some cases it has been confused with Hereditary Hemochromatosis whose treatment is not effective in the case of hyperferritinemia with cataracts.
Through genetic and molecular biology studies the researchers have discovered that the Badalona mutation interferes subtly in the regulation of the production of ferritin by the iron regulatory proteins (IRPs) but sufficiently to disrupt their function. An intereseting and unexpected find was that in the Spanish family studied there are several members who carry the mutation in double dose (homozygous mutation) a feature that is very rare to find as a single mutation is sufficient to cause the disease (autosomal dominant genetic disease).
Ferritin is the iron storage protein in our cells. The production of ferritin is regulated by the iron regulatory proteins (IRP). Several mutations in the ferritin mRNA destroy its regulation by the IRPs and lead to the development of the disease. Historically, genetic laboratories dedicated to the detection of these mutations have named them with the name of the city where they are located, for instance the Paris mutations, the London mutation, the Torino mutation, the Baltimore mutation, the Philadelphia mutation are causative mutations of the hereditary hyperferritinemia with cataracts syndrome.
This study have recently been published in the international journal Orphanet Journal of Rare Diseases (OJRD), dedicated to the dissemination of medical and scientific knowledge about rare diseases.