Monogenic diabetes
Diseases in which genetic factors contribute to nearly 100% of the causation by single-gene mutations are referred to as monogenic disorders or Mendelian genetic diseases. These include neonatal diabetes mellitus (NDM), presenting within the first six months of life, maturity-onset diabetes of the y...
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Veröffentlicht in: | Diabetology international 2024-10, Vol.15 (4), p.679-687 |
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description | Diseases in which genetic factors contribute to nearly 100% of the causation by single-gene mutations are referred to as monogenic disorders or Mendelian genetic diseases. These include neonatal diabetes mellitus (NDM), presenting within the first six months of life, maturity-onset diabetes of the young (MODY), developing later in childhood or adolescence, mitochondrial diabetes (MIDD), and insulin-resistant disorders, etc. On the other hand, common lifestyle-related diseases such as type 2 diabetes (T2DM), hypertension and dyslipidemia are multifactorial, emerging through complex interplay of genetic and environmental factors. The identification of causative genes for diabetes resulting from single-gene abnormalities not only unveils previously unknown mechanisms of insulin secretion and sensitivity at the molecular level but also reveals novel targets for drug development. Moreover, monogenic diabetes in which insulin secretion is impaired serve to clarify the pathophysiology and suggest therapeutic targets for the common multifactorial type 2 diabetes mellitus prevalent in the Japanese population, which is characterized by impaired insulin secretion. In this study, we characterize the various monogenic subtypes of diabetes so far identified. |
doi_str_mv | 10.1007/s13340-024-00698-6 |
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These include neonatal diabetes mellitus (NDM), presenting within the first six months of life, maturity-onset diabetes of the young (MODY), developing later in childhood or adolescence, mitochondrial diabetes (MIDD), and insulin-resistant disorders, etc. On the other hand, common lifestyle-related diseases such as type 2 diabetes (T2DM), hypertension and dyslipidemia are multifactorial, emerging through complex interplay of genetic and environmental factors. The identification of causative genes for diabetes resulting from single-gene abnormalities not only unveils previously unknown mechanisms of insulin secretion and sensitivity at the molecular level but also reveals novel targets for drug development. Moreover, monogenic diabetes in which insulin secretion is impaired serve to clarify the pathophysiology and suggest therapeutic targets for the common multifactorial type 2 diabetes mellitus prevalent in the Japanese population, which is characterized by impaired insulin secretion. 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These include neonatal diabetes mellitus (NDM), presenting within the first six months of life, maturity-onset diabetes of the young (MODY), developing later in childhood or adolescence, mitochondrial diabetes (MIDD), and insulin-resistant disorders, etc. On the other hand, common lifestyle-related diseases such as type 2 diabetes (T2DM), hypertension and dyslipidemia are multifactorial, emerging through complex interplay of genetic and environmental factors. The identification of causative genes for diabetes resulting from single-gene abnormalities not only unveils previously unknown mechanisms of insulin secretion and sensitivity at the molecular level but also reveals novel targets for drug development. Moreover, monogenic diabetes in which insulin secretion is impaired serve to clarify the pathophysiology and suggest therapeutic targets for the common multifactorial type 2 diabetes mellitus prevalent in the Japanese population, which is characterized by impaired insulin secretion. In this study, we characterize the various monogenic subtypes of diabetes so far identified.</description><subject>Children</subject><subject>Diabetes</subject><subject>Diabetes mellitus (non-insulin dependent)</subject><subject>Drug development</subject><subject>Dyslipidemia</subject><subject>Endocrinology</subject><subject>Environmental factors</subject><subject>Genetic disorders</subject><subject>Genetic factors</subject><subject>Insulin</subject><subject>Insulin secretion</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Metabolic Diseases</subject><subject>Mini-Review</subject><subject>Neonates</subject><subject>Pathophysiology</subject><subject>Point mutation</subject><subject>Population studies</subject><subject>Therapeutic targets</subject><issn>2190-1678</issn><issn>2190-1686</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><recordid>eNp9kD1PwzAQhi0EolXpwsiAkFhYDHfxR-wRVeVDKmKB2bKTa5WqTUrcDPx7TFOKxICXs-Tn3vM9jF0g3CJAfhdRCAkcMskBtDVcH7FhhhY4aqOPD_fcDNg4xiWkIy1Crk_ZQFiprZLZkJ2_NHWzoLoqrsrKB9pSPGMnc7-KNN7XEXt_mL5Nnvjs9fF5cj_jhVBiy9EK7XMBXgeVG1lQ8D5IIz1aj4DKKgpGAZVGSiJdgglBBYGUiZzQSDFiN33upm0-Oopbt65iQauVr6npohOYpRSBUiX0-g-6bLq2Tr_bUWkxKTBRWU8VbRNjS3O3aau1bz8dgvuW5nppLklzO2lOp6bLfXQX1lQeWn4UJUD0QExP9YLa39n_xH4BalJzUA</recordid><startdate>20241001</startdate><enddate>20241001</enddate><creator>Horikawa, Yukio</creator><creator>Hosomichi, Kazuyoshi</creator><creator>Yabe, Daisuke</creator><general>Springer Nature Singapore</general><general>Springer Nature B.V</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>K9.</scope><scope>7X8</scope></search><sort><creationdate>20241001</creationdate><title>Monogenic diabetes</title><author>Horikawa, Yukio ; Hosomichi, Kazuyoshi ; Yabe, Daisuke</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c353t-1936a730a6b5784cebaab484a19a101595eb850ed844ee6d08bb5b31e237e1843</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Children</topic><topic>Diabetes</topic><topic>Diabetes mellitus (non-insulin dependent)</topic><topic>Drug development</topic><topic>Dyslipidemia</topic><topic>Endocrinology</topic><topic>Environmental factors</topic><topic>Genetic disorders</topic><topic>Genetic factors</topic><topic>Insulin</topic><topic>Insulin secretion</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Metabolic Diseases</topic><topic>Mini-Review</topic><topic>Neonates</topic><topic>Pathophysiology</topic><topic>Point mutation</topic><topic>Population studies</topic><topic>Therapeutic targets</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Horikawa, Yukio</creatorcontrib><creatorcontrib>Hosomichi, Kazuyoshi</creatorcontrib><creatorcontrib>Yabe, Daisuke</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Diabetology international</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Horikawa, Yukio</au><au>Hosomichi, Kazuyoshi</au><au>Yabe, Daisuke</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Monogenic diabetes</atitle><jtitle>Diabetology international</jtitle><stitle>Diabetol Int</stitle><addtitle>Diabetol Int</addtitle><date>2024-10-01</date><risdate>2024</risdate><volume>15</volume><issue>4</issue><spage>679</spage><epage>687</epage><pages>679-687</pages><issn>2190-1678</issn><eissn>2190-1686</eissn><abstract>Diseases in which genetic factors contribute to nearly 100% of the causation by single-gene mutations are referred to as monogenic disorders or Mendelian genetic diseases. These include neonatal diabetes mellitus (NDM), presenting within the first six months of life, maturity-onset diabetes of the young (MODY), developing later in childhood or adolescence, mitochondrial diabetes (MIDD), and insulin-resistant disorders, etc. On the other hand, common lifestyle-related diseases such as type 2 diabetes (T2DM), hypertension and dyslipidemia are multifactorial, emerging through complex interplay of genetic and environmental factors. The identification of causative genes for diabetes resulting from single-gene abnormalities not only unveils previously unknown mechanisms of insulin secretion and sensitivity at the molecular level but also reveals novel targets for drug development. Moreover, monogenic diabetes in which insulin secretion is impaired serve to clarify the pathophysiology and suggest therapeutic targets for the common multifactorial type 2 diabetes mellitus prevalent in the Japanese population, which is characterized by impaired insulin secretion. 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subjects | Children Diabetes Diabetes mellitus (non-insulin dependent) Drug development Dyslipidemia Endocrinology Environmental factors Genetic disorders Genetic factors Insulin Insulin secretion Medicine Medicine & Public Health Metabolic Diseases Mini-Review Neonates Pathophysiology Point mutation Population studies Therapeutic targets |
title | Monogenic diabetes |
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