Nature Medicine | Spoonful of Medicine

Gout gene

Gout is an inflammatory disease that results from the deposition of uric acid crystals in the joints. It tends to be somewhat common in people with high levels of uric acid in the blood, which is, in turn, often the result of reduced renal excretion of the acid. How does this chain of events come about? Two papers in Nature Genetics give us a clue: Veronique Vitart and her colleagues and Angela Doring and her colleagues independently identified variants in the gene SLC2A9 that are linked to variability in uric acid concentrations.

SLC2A9 encodes a fructose transporter, but Vitart and colleagues found that the protein can also transport uric acid when expressed in Xenopus oocytes. Moreover, the transporter was already known to be expressed in the kidney. So, this molecule could very well turn out to be a therapeutic target for gout. The image below, from Ed Euthman, shows uric acid crystals in a human joint.

uratecrystal.jpg

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    Charlotte Schubert said:

    Gout doesn’t just confine itself to us mammals. Gout apparently afflicts about half of the lizards at the national zoo, says an acquaintance of mine who works there. Lizards. Not much of a pubmed literature on them though.

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    Sergio Stagnaro said:

    Clearly, whatever gene mutation brings about biological system functional modification.

    On the basis of 52-year-long clinical experience, I’dd like to state that gouthy, even under diuretic therapy, may occur exclusively in individuals with “gouthy constitution” (1). In addition,kidney disorders may occur only in subjects showing since birth renal “real risk”, characterized by local microcirculatory remodelling, based on newborn-pathological, type I, subtype a) ONCOLOGICAL, and b) aspecific, Endoarteriolar Blocking Devices (1-4) See web sites http://www.semeioticabiofisica.it Biophysical-Semeiotic Constitutions, as well as the http://semeioticabiofisica.it/microangiology. In fact, nowadays clinicians should evaluate and treat first of all such as individuals, recognized bedside, and on very large scale. A lot of other constitutions may be clinically diagnosed in a quantitative way (1-3). Furthermore, at the base of all these alterations there are both parenchymal and microvascular inherited alterations (n-DNA and mit-DNA), which parallell the former, according to theory of Angiobiopathy, which completes Tischendorf’s Angiobiotopy theory (1-6). As a matter of fact alterations of microvascular tissue units, and particularly neoformed, pathological, type I, sub-type b), Endoarterial Blocking Devices (EBD) in small arterioles, according to Hammersen, account for the reason that great arterial vessels and particularly microvessels show an impaired motility ,i.e., vasomotility and vasomotion, and than tissue acidosis. (1-6). Indeed, neither all dyslipidaemics nor diabetics present metabolic syndrome, both classic and “variant”, I described formerly (1- 6)

    Certainly, early interventions against these inherited alterations represent the efficacious primary prevention, reducing the risk rheumatic diseases. However, in my long clinical experience, we must go beyond the known risk factors. In fact, Primary Prevention of the most common and dangerous human pathologies, depends clearly by easy and quick bed-side detecting individuals at "real risk” since bith, i.e. involved by well- defined biophysical-semeiotic constitution, assessed clinically in a quantitative way (5). In order to define clinically a particular constitution and related real risk, which does not exclude the presence of a lot of other constitutions, of course, it is necessary to think over the current possibility of gathering at the bed side biophysical-semeiotic data, rich of biological and molecular biological information on the various human organs, tissues and biological systems, so that doctor can describe numerous types of biophysical- semeiotic constitutions, even from the quantitative point of view. Without any doubt, these data can not be observed at all by the aid of neither traditional physical semeiotics nor sophysticated semeiotics, the later on very large scale, of course, unable of carrying molecular-biological events to clinical dimension, which really represents the most original and fertile aspect of Biophysical Semeiotics, which really allows doctor to make correctly early diagnosis.

    References

    1) Stagnaro S., Stagnaro-Neri M., Le Costituzioni Semeiotico- Biofisiche.Strumento clinico fondamentale per la prevenzione primaria e la definizione della Single Patient Based Medicine. Travel Factory, Roma, 2004. http://www.travelfactory.it/libro_costituzionisemeiotiche.htm

    2) Stagnaro-Neri M., Stagnaro S. Introduzione alla Semeiotica Biofisica. Il Terreno Oncologico. Travel Factory, Roma, 2004. http://www.travelfactory.it/semeiotica_biofisica.htm 2004

    3) Stagnaro S., Stagnaro-Neri M., Single Patient Based Medicine.La Medicina Basata sul Singolo Paziente: Nuove Indicazioni della Melatonina. Travel Factory, Roma, 2005. http://www.travelfactory.it/libro_singlepatientbased.htm 2005

    4) Stagnaro S., Auscultatory Percussion of Rheumatic Diseases. X European Congress of Rheumatology. Moscow. 26 June-July, 1983, Proceedings, pg 175 5) Stagnaro S., Auscultatory Percussion Therapeutic Monitoring and Cerebral Dominance in Rheumatology. 2nd World Congress of Inflammation, Antirheumatics, analgesics, immunomodulators. Abstracts, A. Book 1, pg. 116, March 19-22, 1986,Montecarlo.

    6) Stagnaro-Neri M., Stagnaro S., Diagnosi Clinica Precoce dell’Osteoporosi con la Percussione Ascoltata. Clin.Ter. 137, 21-27, 1991 [MEDLINE] .

    7) Stagnaro S., Polimialgia Reumatica Acuta Benigna Variante. Clin. Ter. 118, 193, 1986 [MEDLINE].

    8)Stagnaro Sergio. Newborn-pathological Endoarteriolar Blocking Devices in Diabetic and Dislipidaemic Constitution and Diabetes Primary Prevention. The Lancet. March 06 2007. http://www.thelancet.com/journals/lancet/article/PIIS0140673607603316/

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