March 2008
Another year has flown by and EIC is now looking forward to another year of excellent scientific pursuits and to the EIC first visit to Switzerland for its Annual Meeting.
The Annual Meeting at the King’s College London was held from the 13th to the 15th of September, 2007, organized by Rob Evans and Bob Hider. As usual, it served as an interface between clinicians and fundamental bioscientists, with a heavy emphasis on the contributions of the latter to the understanding of the former. Over 170 participants enjoying an Indian summer in the attractive surroundings of the Guy’s Campus of King’s College. Substantial support from a number of sponsors allowed the participation some thirty students through bursaries.
On day 1 lectures on the aetiology and pathogenesis of iron deficiency anaemia in the Western World and Developing Countries and physical studies on the chemical structures of various iron supplements presented. Factors involved in the pathogenesis of genetic haemochromatosis including, NDrg-1, (a growth factor and metastasis suppression gene), iron stores, the heterogeneity of CY and HD and calreticulum mRNA and hepatitis C virus (HCV) were given.
Sickle-cell disease, (SCD) is characterised by chronic haemolytic anamia, punctuated by sickling crises triggered by the “sickled” red blood cells. As Swee Ley Thein pointed out, due to recent population movements, it has become a global health issue, and is currently the most common, and fastest growing serious genetic disorder in many countries, including the UK. Transfusion therapy, which aims to maintain HbS levels at 20-30%, are particularly successful in preventing recurrent stroke in young children. Sideroblastic anaemia designates a wide spectrum of disorders, all of which are diagnosed by the presence of pathologic iron deposits in erythroblast mitochondria, and was described in greater detail by Alison May.
The potential physiological role of mitochondrial ferritin was discussed by Sonia Levi, who concluded that it was more likely to be involved in iron detoxification and protection against oxidative damage than in iron storage. Friedreich’s ataxia, the most prevalent cerebral ataxia in children and adults is characterised by deficiency of mitochondrial frataxin, a protein now known to be important in FeS assembly, and massive mitochondrial iron accumulation. Or Kakhlon described how frataxin deficiency led to oxidative damage and mitochondrial membrane depolarisation. The use of iron chelators, such as deferiprone, which could redistribute iron between intracellular compartments, could repair damage caused by frataxin deficiency. Bob Hider reviewed the use of iron chelators, for the treatment of neurodegenerative disease, such as Parkinson’s disease. Emanuela Tolosano showed that mice in which the gene for the haem-binding plasma glycoprotein hemopexin had been ablated accumulated iron in brain basal ganglia, suggesting a role for hemopexin in iron-related neurodegenerative diseases.
Mayka Sanchez presented studies on previously unidentified mRNAs which have iron regulatory elements (IREs) in their untranslated regions and might interact with the well known iron regulatory proteins (IRPs). Martina Muckenthaler highlighted the importance of using Cre/LoxP technology to specifically ablate HFE expression in duodenal enterocytes, macrophages and hepatocytes in order to study the role of hepcidin in the iron overload observed in genetic haemochromatosis (HFE). The accurate determination of hepcidin levels in serum and urine is important, and several contributions addressed this question (Erwin Kemna, B.A.C. van Dijk and S. Bansal for serum and S. Bansal, N. Campostrini and Heinz Zoller for urine). It is still unsure whether hepcidin may contain a metal ion, either copper (Heinz Zoller) or iron (Sébastien Farnaud).
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