{"id":6751,"date":"2020-07-15T23:56:22","date_gmt":"2020-07-15T18:56:22","guid":{"rendered":"https:\/\/drmohans.com\/?p=6751"},"modified":"2024-11-27T10:03:24","modified_gmt":"2024-11-27T10:03:24","slug":"what-is-maturity-onset-diabetes-of-the-young-mody","status":"publish","type":"post","link":"https:\/\/drmohans.com\/backend\/what-is-maturity-onset-diabetes-of-the-young-mody\/","title":{"rendered":"WHAT IS MATURITY ONSET DIABETES OF THE YOUNG (MODY)"},"content":{"rendered":"<p style=\"text-align: center;\"><strong>DR.V. MOHAN,<\/strong><br \/>\n<em>Chairman &amp; Chief Diabetologist <\/em><em>Dr. Mohan\u2019s Diabetes Specialities Centre &amp; <\/em><em style=\"font-size: 1rem;\">Director &amp; <\/em><em style=\"font-size: 1rem;\">Chief of Diabetes Research<\/em><em style=\"font-size: 1rem;\">, Madras Diabetes Research Foundation<\/em><\/p>\n<p style=\"text-align: center;\">\u00a0 and<\/p>\n<p style=\"text-align: center;\"><strong style=\"font-size: 1rem;\">DR. RADHA VENKATESAN,<br \/>\n<\/strong><em>Executive Scientific Officer &amp; Head,\u00a0Dept. of Molecular Genetics<\/em><em>Madras Diabetes Research Foundation, Chennai, India<\/em><\/p>\n<p>The entity known as \u2018Maturity Onset Diabetes of the Young (MODY)\u2019 was first described by Robert Tattersall and Stefan Fajans in a classic paper published in the journal,\u00a0 \u2018<a href=\"https:\/\/oldlive.drmohans.com\/precision-diabetes\/\">Diabetes<\/a>\u2019 \u00a0in the year 1975. At that time, diabetes was classified into 2 types based on the age at onset of diabetes. If the onset of diabetes was above 40 years of age, it was called as \u2018Maturity Onset Diabetes\u2019 or \u2018MOD\u2019 and if the onset was below 40 years of age, it is called as \u2018Growth Onset Diabetes\u2019 or \u2018GOD\u2019. It was generally presumed that all MOD would be equivalent to what is classified today as \u2018<a href=\"https:\/\/oldlive.drmohans.com\/type-2-diabetes-mellitus-going-through-pregnancy\/\">Type 2 diabetes<\/a>\u2019 and can be treated without insulin and with tablets and diet and exercise whereas the GOD was considered to be equivalent of \u2018Insulin dependent diabetes mellitus\u2019 or \u2018type 1 diabetes\u2019 and they were started on insulin injections.<\/p>\n<p>Tattersall and Fajans described a group of young onset children, adolescents and young adults with diabetes who did not need insulin and were successfully treated with oral hypoglycaemic agents. These patients were\u00a0 called as \u2018Maturity onset diabetes of the young\u2019 or \u2018MODY\u2019 because the onset was at an young age, but\u00a0 were\u00a0 to be different from the classical growth onset which we\u00a0 called as \u2018type 1 diabetes\u2019 today. At that time, the genetics of MODY was not known. In 1992, the first MODY gene was discovered. Soon,\u00a0 different subtypes of MODY from\u00a0 MODY 1 to MODY 14 were identified, each with specific genetic defect in one or the other chromosome. Since MODY was caused by a single defect, they come under the category of \u2018Monogenic Diabetes\u2019.<\/p>\n<p>The clinical features of MODY was originally described by Tattersall and Fajans are as follows :<\/p>\n<ol>\n<li>Age at onset &lt; 25 years<\/li>\n<li>Strong family history of diabetes going through 3 or more generations with at least one of the parents having the disease<\/li>\n<li>Do not require insulin for management,\u00a0 at least for a few years<\/li>\n<li>Absence of ketoacidosis<\/li>\n<li>Absence of obesity or other sign of insulin resistance like acanthosis nigricans<\/li>\n<li>No evidence of ketoacidosis<\/li>\n<li>Fairly well preserved beta cell function<\/li>\n<li>No evidence of insulin antibodies (auto immunity as seen in patients with type 1 diabetes)<\/li>\n<\/ol>\n<p>With these clinical features, a number of youth onset patients were classified as MODY. However, the problem at that time was that in the absence of a specific genetic marker, MODY was often confused with type 2 diabetes which occurs in the young. Once the genetic defects in MODY were identified, it was then possible to accurately diagnose MODY. Of the 14 varieties of the MODY that have been described, some forms like MODY 1, 2,3 and 5 are very well known and the clinically features\u00a0 are well characterized. \u00a0The clinical features of the rarer forms of the MODY are less well described and indeed it is doubted whether some of them are truly MODY as shown in Table 1.<\/p>\n<p>If a young patient is diagnosed with what looks like type 1 diabetes but has atypical features, example, the pancreatic beta cell function seems to be relatively preserved (C-peptide levels are present) and if the anti-bodies associated with type 1 diabetes\u00a0 like GAD antibody, Zinc transporter, IA 2, ICA, etc., are absent, it is well worth screening that person for MODY. By doing a simple genetic screening test, it can be identified whether the person has MODY and also which type of MODY. Some forms of MODY like MODY 1, MODY 3 and MODY 12 respond to oral sulphonylurea agents. We have had several patients who were wrongly diagnosed to have type 1 diabetes in whom we were able to withdraw the insulin completely and changed them over to oral sulphonylurea agents after genetic testing was done at our centre.<\/p>\n<p>Table 1 shows the recent classification of the common, rare and doubtful MODY types.<\/p>\n<p><strong>Table 1 : Recent classification of MODY subtypes (1)<\/strong><\/p>\n<table>\n<tbody>\n<tr>\n<td width=\"301\"><strong>a.\u00a0\u00a0\u00a0 <\/strong><strong>Common or well-established forms of MODY (1% of MODY or greater)<\/strong><\/p>\n<p><strong>\u00a0<\/strong><\/td>\n<td width=\"301\"><em>HNF1A<\/em>-(MODY3), <em>HNF4A<\/em>-(MODY1) and <em>GCK<\/em>-(MODY2), <em>HNF1B<\/em>-(MODY5), <em>ABCC8<\/em>-(MODY12), <em>KCNJ11<\/em>-(MODY13), <em>INS<\/em>-(MODY10)<\/td>\n<\/tr>\n<tr>\n<td width=\"301\"><strong>b.\u00a0\u00a0\u00a0 <\/strong><strong>Rare forms of MODY (Few families described but reasonable generic evidence for causing MODY)<\/strong><\/td>\n<td width=\"301\"><em>NEUROD1<\/em>-(MODY6), <em>IPF1\/PDX1<\/em>-(MODY4), <em>CEL<\/em>-(MODY8), <em>WSF1<\/em> and <em>RFX6<\/em><\/td>\n<\/tr>\n<tr>\n<td width=\"301\"><strong>c.\u00a0\u00a0\u00a0 <\/strong><strong>Genes reported as causal for MODY but evidence not compelling<\/strong><\/td>\n<td width=\"301\"><em>BLK<\/em>-(MODY11), <em>PAX4<\/em>-(MODY9) and <em>KLF11<\/em>-(MODY7), <em>APPL1<\/em>-(MODY14), <em>NKX6-1<\/em><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p><strong><u>Reference :<\/u><\/strong><\/p>\n<p>1.\u00a0 <a href=\"https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S1056872720303998?via%3Dihub#!\" target=\"_blank\" rel=\"noopener\">\u00a0Aarthy R, <\/a><a href=\"https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S1056872720303998?via%3Dihub#!\" target=\"_blank\" rel=\"noopener\">Aston-Mourney K, <\/a><a href=\"https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S1056872720303998?via%3Dihub#!\" target=\"_blank\" rel=\"noopener\">Mikocka-Walus A, <\/a><a href=\"https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S1056872720303998?via%3Dihub#!\" target=\"_blank\" rel=\"noopener\">Radha V, <\/a><a href=\"https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S1056872720303998?via%3Dihub#!\" target=\"_blank\" rel=\"noopener\">Amutha A, <\/a><a href=\"https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S1056872720303998?via%3Dihub#!\" target=\"_blank\" rel=\"noopener\">Anjana RM, <\/a>\u00a0<a href=\"https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S1056872720303998?via%3Dihub#!\" target=\"_blank\" rel=\"noopener\">Unnikrishnan R, Mohan V. <\/a>\u00a0Clinical features, complications and treatment of rarer\u00a0 forms of maturity-onset diabetes of the young (MODY) &#8211; A review. Journal of\u00a0\u00a0 Diabetes and its Complications. 2020. Available online 29 May 2020.<\/p>\n<blockquote><p>If you know of a young person who showing atypical features of type 1 diabetes and you want to rule out MODY, kindly contact us and we would be happy to help you with the genetic testing for MODY. For more information, kindly visit our websites <a href=\"http:\/\/www.monogenicdiabetes.in\" target=\"_blank\" rel=\"noopener\"><strong>http:\/\/www.monogenicdiabetes.in\u00a0 <\/strong><\/a><strong>&amp; <\/strong><a href=\"http:\/\/www.mdrf.in\" target=\"_blank\" rel=\"noopener\"><strong>www.mdrf.in<\/strong><\/a> which will give you details about how to send the blood samples for\u00a0 MODY genetic testing.<\/p><\/blockquote>\n<p><strong>Please fill the MODY Registration form before sending samples. <\/strong><\/p>\n<p><strong>Send blood samples to:<\/strong><\/p>\n<p><strong>Molecular Genetics\u00a0 Department,<br \/>\n<\/strong>Madras Diabetes Research Foundation,<br \/>\n4, Conran Smith Road, Gopalapuram, Chennai-600 086, India.<br \/>\nTel. +91 43968888 Ext: 8321\/ +91 33505555 Ext:509<\/p>\n<p><strong>Contact Numbers :<\/strong><br \/>\n09840106815 : Dr. RadhaVenkatesan<br \/>\n09884776545 \u00a0: Dr. S. Kanthi Mathi<br \/>\n09940373069 \u00a0: Dr. Amutha Anandakumar<\/p>\n<p><strong>For details contact :<\/strong><\/p>\n<p><strong>Dr. Mohan\u2019s Diabetes Specialities Centre &amp;\u00a0<\/strong><strong>Madras Diabetes Research Foundation<br \/>\n<\/strong>4, Conran Smith Road,<br \/>\nGopalapuram,<br \/>\nChennai-600 086. India<br \/>\nPh: (91 -44) 43968888<br \/>\nFax : (91-44) 28350935<br \/>\nE-mail : drmohans@diabetes.ind.in<\/p>\n<p><strong><u>\u00a0<\/u><\/strong><\/p>\n","protected":false},"excerpt":{"rendered":"<p>DR.V. MOHAN, Chairman &amp; Chief Diabetologist Dr. Mohan\u2019s Diabetes Specialities Centre &amp; Director &amp; Chief of Diabetes Research, Madras Diabetes [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":17115,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[350],"tags":[],"class_list":["post-6751","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-blogs"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.9 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>\u2018Maturity Onset Diabetes of the Young (MODY) | Dr Mohans<\/title>\n<meta name=\"description\" content=\"If you know of a young person who showing atypical features of type 1 diabetes and you want to rule out MODY, kindly contact us and we would be happy to help you with the genetic testing for MODY\" \/>\n<meta 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