{"id":82893,"date":"2017-02-27T21:01:20","date_gmt":"2017-02-27T20:01:20","guid":{"rendered":"https:\/\/www.paleopatologia.it\/dna-of-italian-mummy-reveals-rheumatoid-arthritis-in-europe-before-columbus\/"},"modified":"2017-02-27T21:01:20","modified_gmt":"2017-02-27T20:01:20","slug":"dna-of-italian-mummy-reveals-rheumatoid-arthritis-in-europe-before-columbus","status":"publish","type":"post","link":"https:\/\/www.paleopatologia.it\/dna-of-italian-mummy-reveals-rheumatoid-arthritis-in-europe-before-columbus\/","title":{"rendered":"Dna of italian mummy reveals rheumatoid arthritis in europe before columbus"},"content":{"rendered":"<div align=\"left\"><strong>F. Papola<\/strong>1<strong>, G.   Fontecchio<\/strong>1<strong>, L.   Ventura<\/strong>2<strong>, D. Adorno<\/strong>1<strong>, G.   Fornaciari<\/strong>3<\/p>\n<div>1Regional Centre of Immunohematology and Tissue   Typing, ASL n.4, L&rsquo;Aquila.\n          <\/div>\n<div>2Department of Pathology, San Salvatore   Hospital, ASL n.4, L&rsquo;Aquila.<br \/>\n            3Department of Oncology, Transplants   ad Advanced Technologies in Medicine,&nbsp;<br \/>\n            &nbsp; Division of&nbsp;Paleopathology,   University of Pisa, Via Roma 57, 56126 Pisa, Italy <br \/>\n            &nbsp; (e-mail: <a href=\"mailto:g.fornaciari@med.unipi.it\">g.fornaciari@med.unipi.it<\/a>)<\/div>\n<p>          Some   paleopathological studies suggest that Rheumatoid Arthritis (RA) started in the   New World, among ancient American Indians in Tennessee and neighbouring areas   (5000-500 BC) and only after the discovery of America the disease was exported   to the Old World.<strong><U>1<\/U><\/strong><\/p>\n<div>\n            In 1996, in the Basilica of S. Francesco, famous for the frescoes of   Piero della Francesca, a female mummy was discovered (figure, a). This 50-55   year old woman, nicknamed &ldquo;Braids Lady&rdquo;, lived in the 16th century   and her body, well examined through several diagnostic instrumental   investigations, shows many pathologic signs peculiar to RA: large erosions and   evident subluxation of the metacarpophalangeal joints of the hands, lateral   deviation of all the fingers with typical &ldquo;z&rdquo; deformation of the thumbs (figure,   b), partial overlapping and fibular deviation of the toes, severe erosion of the   right humerus head, but no involvement of the sacroiliac articulation, a   prominent manifestation of&nbsp; the ankylosing   spondylitis.<strong><U>2<\/U><\/strong><\/p>\n<div>\n              It is common knowledge that several autoimmune disorders are related to   highly polymorphic and co-dominatly expressed antigens encoded by HLA (Human   Leukocyte Antigen) complex. Particularly, the association between RA and some   alleles of HLA-DRB1 locus, such as DRB1*0101, DRB1*0401, DRB1*0404, DRB1*0405,   DRB1*0408, DRB1*1402 and DRB1*1001, is well established and a high percentage   (&gt; 90%) of individuals affected by this pathology possess some members of   DRB1*01 or DRB1*04 gene families.<strong><U>3<\/U><\/strong> <\/p>\n<div><\/p>\n<div>The purpose of our work was to define the HLA-DRB genotype of &ldquo;Braids Lady&rdquo;   for researching the possible presence of some RA susceptibility gene. <\/p>\n<p>                    We   first performed molecular&nbsp; analysis on DNA obtained from deparaffinized tissue   sections (by PCR-SSO) and then from the entire bone (by PCR-SSP).<br \/>\n                    HLA-DRB   typing using PCR-SSO has shown the presence of DRB1*0101 and DRB1*1101 alleles   (corresponding to DR1 and DR11 serotypes, respectively), together with   positivity for DRB3 gene (phenotipically DR52). The assignment of allele   DRB1*0101 has been confirmed by PCR-SSP (further details available from FP)   (figure, c). \n                  <\/div>\n<div align=\"left\">\n                    <img decoding=\"async\" src=\"..\/..\/immagini\/Figurebis.jpg\" alt=\"img1\" width=\"376\" height=\"286\" border=\"0\" \/><\/p>\n<p>                    <strong>Figure legend<br \/>\n                    <\/strong><br \/>\n                    <strong>a: <\/strong>Natural mummy from the Basilica of S.   Francesco in Arezzo (17th century). <strong>b: <\/strong>Left hand   with large erosions of the metacarpophalangeal joints and lateral deviation of   the fingers. <strong>c:<\/strong> HLA-DRB typing by PCR-SSP. The DNA, previously   amplified using allele-specific primers, is run on 2% agarose gel stained with   ethidium bromide and visualized on UV light. The bands (specific products),   appearing in the gel at lanes 2 (200bp),&nbsp; 13 (270 bp) and 22 (240 bp),   correspond to DRB1*0101, DRB1*11 and DRB3*01-03 alleles, respectively. The human   growth hormone is added as internal control (1069 bp); the lane 1 is the   negative control.<br \/>\n                    <strong>Comment<br \/>\n                    <\/strong>DRB1*0405 and *1001 are   the most frequent in Asiatics with *1001 even in Spain;&nbsp; DRB1*0101, together   with DRB1*0401,*0404-05 sharing epitope Q(K\/R)RAA, is associated with RA in   Mediterranean patients, including Italians;<strong><U>4<\/U><\/strong> finally, DRB1*1402, 0802, 0811 and 0407, absent or poorly represented in the   Italian population, have generally a significantly higher gene frequency among   Native Americans than other DRB1 alleles (Navajo and Pimans of Gila River Indian   Community of Arizona, Lakota Sioux, Seri tribe of Northwest   Mexico).<strong><U>5<br \/>\n                    <\/U><\/strong>\n                  <\/div>\n<div>\n<div align=\"left\">\n                          <\/div>\n<div>\n<div align=\"left\"><strong>In conclusion, we can state, by the positivity for DRB1*0101 allele   in an Italian&nbsp;Renaissance mummy with clear &ldquo;symptoms&rdquo; of&nbsp; Reumathoid Arthritis,   that&nbsp; this disease was present in the Old World before the discovery of America   by Columbus in 1492.<\/strong><\/div><\/div>\n<div>\n<div>\n<div align=\"left\"><strong><br \/>\n                                References<br \/>\n                                <\/strong>\n                              <\/div>\n<div>\n<div>\n<div align=\"left\"><strong><U>1<\/U><\/strong>Rothschild BM, Woods RJ, Rothschild C,   Sebes JI. Geographic distribution of rheumatoid arthritis in ancient North   America: implication for pathogenesis. <em>Semin Arthritis Rheum<\/em> 1992;   22:181-7.<\/div><\/div>\n<div>\n<div align=\"left\"><strong><U>2<\/U><\/strong>Ciranni R, Garbini F, Neri E, Melai L,   Giusti L, Fornaciari G. The &ldquo;Braids Lady&rdquo; of Arezzo: a case of rheumatoid   arthritis in a 16th century mummy. <em>Clin Exp Rheumatol <\/em>2002; 20:   745-52.<br \/>\n                                      <strong><U>3<\/U><\/strong>Gonzalez-Gay MA, Garcia-Porrua C   and Haajer AH. Influence of human leukocyte antigen-DRB1 on the susceptibility   and severity of rheumatoid arthritis. <em>Semin Atrhritis Rheum<\/em> 2002;31:355-60. \n                                    <\/div>\n<div>\n<div align=\"left\"><strong><U>4<\/U><\/strong>Bongi SM, Porfirio B, Rombola G,   Palasciano A, Beneforti E, Bianucci G. Shared-epitope HLA-DRB1 alleles and sex   ratio in Italian patients with rheumatoid arthritis. <em>Joint Bone Spine<\/em>.   2004;71:24-8.\n                                      <\/div>\n<div>\n<div align=\"left\"><strong><U>5<\/U><\/strong>Leffell MS, Fallin MD, Hildebrand WH,   Cavett JW, Iglehart BA, Zachary AA. HLA alleles and haplotypes among the Lakota   Sioux: report of the ASHI minority workshops, part III. <em>Hum Immunol<\/em> 2004;65:78-89.<\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div>\n","protected":false},"excerpt":{"rendered":"<p>Some paleopathological studies suggest that Rheumatoid Arthritis (RA) started in the New World, among ancient American Indians in Tennessee and neighbouring areas (5000-500 BC) and only after the discovery of America the disease was exported to the Old World.<\/p>\n","protected":false},"author":1,"featured_media":85362,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[105],"tags":[],"class_list":["post-82893","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-mummiologia"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v24.6 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Dna of italian mummy reveals rheumatoid arthritis in europe before columbus - 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