Mutación más frecuente en los vascos

 De acuerdo con lo que leí en un trabajo realizado en Viscaya, en los genomas de hemocromatosos vascos, predomina la mutación H63D.

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Hemocromatosis y neuropatia - Neuropathy and Haemochromatosis

Idiopathic polyneuropathy was diagnosed in a relative large number of patients with Hereditary Haemochromatosis (26%), but the causal relationship needs to be confirmed in larger (case-control) series. (2010) J. of Neurology International BioIron Society - 8va conferencia  EMBL Heidelberg, Germany 5 - 10 May 2019. Un estudio de 1972 relaciona enfermedad hepática con neuropatia:      Neuropathy was f ound   most   frequently   in   alcoh olic   cirrhosis   and haemochromatosis   but   the   numbe rs   in some   of   the aetiological   groups   were   relat ively   small.   None   of   the   patients   with   haem ochromatosis had had   a   history   of   significant   a lcohol   intake.  
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25-dihidroxy-vitamina D disminuida en la hemocromatosis

Low serum 25-hydroxyvitamin D in hereditary hemochromatosis: relation to iron status. Chow LH , Frei JV , Hodsman AB , Valberg LS . Abstract Under normal conditions, vitamin D absorbed from the diet or synthesized in the skin is transported to the liver where it undergoes hydroxylation . The purpose of this study was to determine whether excess hepatic iron affects this process and the subsequent production of 1,25-dihydroxyvitamin D (1,25-[OH]2D) in the kidney. Mean serum 25-hydroxyvitamin D (25-OHD) concentrations in untreated hereditary hemochromatosis were 13 +/- 6 (SD) in 9 patients with cirrhosis, 13 +/- 6 in 5 patients with hepatic fibrosis, and 22 +/- 6 in 10 patients with normal hepatic architecture aside from siderosis and were significantly lower than the levels found in 24 controls matched for age, sex, and season, p less than 0.05. The mean serum 25-OHD levels in the two groups with hemochromatosis and hepatic damage were significantly lower than the...
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Remielinización y Vitamina D

We observed that cholecalciferol is more efficient than ergocalciferol and, when delivered at a high dose (500 IU/kg/day), cholecalciferol induces a significant locomotor and electrophysiological recovery. We also demonstrated that cholecalciferol increases i) the number of preserved or newly formed axons in the proximal end, ii) the mean axon diameter in the distal end, and iii) neurite myelination in both distal and proximal ends. Finally, we found a modified expression of several genes involved in axogenesis and myelination, after 24 hours of vitamin supplementation. Our study is the first to demonstrate that vitamin D acts on myelination via the activation of several myelin-associated genes. It paves the way for future randomised controlled clinical trials for peripheral nerve or spinal cord repair. La disminución de vitamina D circulante provocada por el hígado atacado por la hemocromatosis, podría ser la causa de la neuropatía. Probaremos si esto mejora administran...
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