The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism
<p dir="ltr">Congenital hyperinsulinism (CHI) is a heterogenous and complex disorder in which the unregulated insulin secretion from pancreatic beta-cells leads to hyperinsulinaemic hypoglycaemia. The severity of hypoglycaemia varies depending on the underlying molecular mechanism an...
محفوظ في:
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| مؤلفون آخرون: | , , |
| منشور في: |
2019
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| _version_ | 1864513525873901568 |
|---|---|
| author | Sonya Galcheva (14172121) |
| author2 | Hüseyin Demirbilek (18093850) Sara Al-Khawaga (4792761) Khalid Hussain (110443) |
| author2_role | author author author |
| author_facet | Sonya Galcheva (14172121) Hüseyin Demirbilek (18093850) Sara Al-Khawaga (4792761) Khalid Hussain (110443) |
| author_role | author |
| dc.creator.none.fl_str_mv | Sonya Galcheva (14172121) Hüseyin Demirbilek (18093850) Sara Al-Khawaga (4792761) Khalid Hussain (110443) |
| dc.date.none.fl_str_mv | 2019-02-26T03:00:00Z |
| dc.identifier.none.fl_str_mv | 10.3389/fendo.2019.00111 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/The_Genetic_and_Molecular_Mechanisms_of_Congenital_Hyperinsulinism/25333723 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biomedical and clinical sciences Clinical sciences hyperinsulinism hypoglycaemia molecular mechanisms genetics mutation |
| dc.title.none.fl_str_mv | The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p dir="ltr">Congenital hyperinsulinism (CHI) is a heterogenous and complex disorder in which the unregulated insulin secretion from pancreatic beta-cells leads to hyperinsulinaemic hypoglycaemia. The severity of hypoglycaemia varies depending on the underlying molecular mechanism and genetic defects. The genetic and molecular causes of CHI include defects in pivotal pathways regulating the secretion of insulin from the beta-cell. Broadly these genetic defects leading to unregulated insulin secretion can be grouped into four main categories. The first group consists of defects in the pancreatic K<sub>ATP</sub> channel genes (<i>ABCC8</i> and <i>KCNJ11</i>). The second and third categories of conditions are enzymatic defects (such as GDH, GCK, HADH) and defects in transcription factors (for example HNF1α, HNF4α) leading to changes in nutrient flux into metabolic pathways which converge on insulin secretion. Lastly, a large number of genetic syndromes are now linked to hyperinsulinaemic hypoglycaemia. As the molecular and genetic basis of CHI has expanded over the last few years, this review aims to provide an up-to-date knowledge on the genetic causes of CHI.</p><h2>Other Information</h2><p dir="ltr">Published in: Frontiers in Endocrinology<br>License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.3389/fendo.2019.00111" target="_blank">https://dx.doi.org/10.3389/fendo.2019.00111</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_1ff11679df14686cdc639023f32e6fa0 |
| identifier_str_mv | 10.3389/fendo.2019.00111 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/25333723 |
| publishDate | 2019 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | The Genetic and Molecular Mechanisms of Congenital HyperinsulinismSonya Galcheva (14172121)Hüseyin Demirbilek (18093850)Sara Al-Khawaga (4792761)Khalid Hussain (110443)Biomedical and clinical sciencesClinical scienceshyperinsulinismhypoglycaemiamolecular mechanismsgeneticsmutation<p dir="ltr">Congenital hyperinsulinism (CHI) is a heterogenous and complex disorder in which the unregulated insulin secretion from pancreatic beta-cells leads to hyperinsulinaemic hypoglycaemia. The severity of hypoglycaemia varies depending on the underlying molecular mechanism and genetic defects. The genetic and molecular causes of CHI include defects in pivotal pathways regulating the secretion of insulin from the beta-cell. Broadly these genetic defects leading to unregulated insulin secretion can be grouped into four main categories. The first group consists of defects in the pancreatic K<sub>ATP</sub> channel genes (<i>ABCC8</i> and <i>KCNJ11</i>). The second and third categories of conditions are enzymatic defects (such as GDH, GCK, HADH) and defects in transcription factors (for example HNF1α, HNF4α) leading to changes in nutrient flux into metabolic pathways which converge on insulin secretion. Lastly, a large number of genetic syndromes are now linked to hyperinsulinaemic hypoglycaemia. As the molecular and genetic basis of CHI has expanded over the last few years, this review aims to provide an up-to-date knowledge on the genetic causes of CHI.</p><h2>Other Information</h2><p dir="ltr">Published in: Frontiers in Endocrinology<br>License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.3389/fendo.2019.00111" target="_blank">https://dx.doi.org/10.3389/fendo.2019.00111</a></p>2019-02-26T03:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.3389/fendo.2019.00111https://figshare.com/articles/journal_contribution/The_Genetic_and_Molecular_Mechanisms_of_Congenital_Hyperinsulinism/25333723CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/253337232019-02-26T03:00:00Z |
| spellingShingle | The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism Sonya Galcheva (14172121) Biomedical and clinical sciences Clinical sciences hyperinsulinism hypoglycaemia molecular mechanisms genetics mutation |
| status_str | publishedVersion |
| title | The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism |
| title_full | The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism |
| title_fullStr | The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism |
| title_full_unstemmed | The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism |
| title_short | The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism |
| title_sort | The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism |
| topic | Biomedical and clinical sciences Clinical sciences hyperinsulinism hypoglycaemia molecular mechanisms genetics mutation |