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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Diabetology international 2024-10, Vol.15 (4), p.679-687
Hauptverfasser: Horikawa, Yukio, Hosomichi, Kazuyoshi, Yabe, Daisuke
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
container_end_page 687
container_issue 4
container_start_page 679
container_title Diabetology international
container_volume 15
creator Horikawa, Yukio
Hosomichi, Kazuyoshi
Yabe, Daisuke
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
format Article
fullrecord <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_3121593145</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>3121049431</sourcerecordid><originalsourceid>FETCH-LOGICAL-c353t-1936a730a6b5784cebaab484a19a101595eb850ed844ee6d08bb5b31e237e1843</originalsourceid><addsrcrecordid>eNp9kD1PwzAQhi0EolXpwsiAkFhYDHfxR-wRVeVDKmKB2bKTa5WqTUrcDPx7TFOKxICXs-Tn3vM9jF0g3CJAfhdRCAkcMskBtDVcH7FhhhY4aqOPD_fcDNg4xiWkIy1Crk_ZQFiprZLZkJ2_NHWzoLoqrsrKB9pSPGMnc7-KNN7XEXt_mL5Nnvjs9fF5cj_jhVBiy9EK7XMBXgeVG1lQ8D5IIz1aj4DKKgpGAZVGSiJdgglBBYGUiZzQSDFiN33upm0-Oopbt65iQauVr6npohOYpRSBUiX0-g-6bLq2Tr_bUWkxKTBRWU8VbRNjS3O3aau1bz8dgvuW5nppLklzO2lOp6bLfXQX1lQeWn4UJUD0QExP9YLa39n_xH4BalJzUA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>3121049431</pqid></control><display><type>article</type><title>Monogenic diabetes</title><source>SpringerLink Journals - AutoHoldings</source><creator>Horikawa, Yukio ; Hosomichi, Kazuyoshi ; Yabe, Daisuke</creator><creatorcontrib>Horikawa, Yukio ; Hosomichi, Kazuyoshi ; Yabe, Daisuke</creatorcontrib><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.</description><identifier>ISSN: 2190-1678</identifier><identifier>EISSN: 2190-1686</identifier><identifier>DOI: 10.1007/s13340-024-00698-6</identifier><identifier>PMID: 39469542</identifier><language>eng</language><publisher>Singapore: Springer Nature Singapore</publisher><subject>Children ; Diabetes ; Diabetes mellitus (non-insulin dependent) ; Drug development ; Dyslipidemia ; Endocrinology ; Environmental factors ; Genetic disorders ; Genetic factors ; Insulin ; Insulin secretion ; Medicine ; Medicine &amp; Public Health ; Metabolic Diseases ; Mini-Review ; Neonates ; Pathophysiology ; Point mutation ; Population studies ; Therapeutic targets</subject><ispartof>Diabetology international, 2024-10, Vol.15 (4), p.679-687</ispartof><rights>The Japan Diabetes Society 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c353t-1936a730a6b5784cebaab484a19a101595eb850ed844ee6d08bb5b31e237e1843</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s13340-024-00698-6$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s13340-024-00698-6$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27923,27924,41487,42556,51318</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39469542$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Horikawa, Yukio</creatorcontrib><creatorcontrib>Hosomichi, Kazuyoshi</creatorcontrib><creatorcontrib>Yabe, Daisuke</creatorcontrib><title>Monogenic diabetes</title><title>Diabetology international</title><addtitle>Diabetol Int</addtitle><addtitle>Diabetol Int</addtitle><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.</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 &amp; 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 &amp; 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 &amp; 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. In this study, we characterize the various monogenic subtypes of diabetes so far identified.</abstract><cop>Singapore</cop><pub>Springer Nature Singapore</pub><pmid>39469542</pmid><doi>10.1007/s13340-024-00698-6</doi><tpages>9</tpages></addata></record>
fulltext fulltext
identifier ISSN: 2190-1678
ispartof Diabetology international, 2024-10, Vol.15 (4), p.679-687
issn 2190-1678
2190-1686
language eng
recordid cdi_proquest_miscellaneous_3121593145
source SpringerLink Journals - AutoHoldings
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
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-09T01%3A22%3A44IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Monogenic%20diabetes&rft.jtitle=Diabetology%20international&rft.au=Horikawa,%20Yukio&rft.date=2024-10-01&rft.volume=15&rft.issue=4&rft.spage=679&rft.epage=687&rft.pages=679-687&rft.issn=2190-1678&rft.eissn=2190-1686&rft_id=info:doi/10.1007/s13340-024-00698-6&rft_dat=%3Cproquest_cross%3E3121049431%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=3121049431&rft_id=info:pmid/39469542&rfr_iscdi=true