Fanconi–Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia
<p dir="ltr">Accumulation of glycogen in the kidney and liver is the main feature of Fanconi–Bickel Syndrome (FBS), a rare disorder of carbohydrate metabolism inherited in an autosomal recessive manner due to SLC2A2 gene mutations. Missense, nonsense, frame-shift (fs), in-frame indel...
محفوظ في:
| المؤلف الرئيسي: | |
|---|---|
| مؤلفون آخرون: | , , |
| منشور في: |
2020
|
| الموضوعات: | |
| الوسوم: |
إضافة وسم
لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!
|
| _version_ | 1864513512829616128 |
|---|---|
| author | Sanaa Sharari (12561952) |
| author2 | Mohamad Abou-Alloul (18719020) Khalid Hussain (110443) Faiyaz Ahmad Khan (18719023) |
| author2_role | author author author |
| author_facet | Sanaa Sharari (12561952) Mohamad Abou-Alloul (18719020) Khalid Hussain (110443) Faiyaz Ahmad Khan (18719023) |
| author_role | author |
| dc.creator.none.fl_str_mv | Sanaa Sharari (12561952) Mohamad Abou-Alloul (18719020) Khalid Hussain (110443) Faiyaz Ahmad Khan (18719023) |
| dc.date.none.fl_str_mv | 2020-08-31T09:00:00Z |
| dc.identifier.none.fl_str_mv | 10.3390/ijms21176286 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Fanconi_Bickel_Syndrome_A_Review_of_the_Mechanisms_That_Lead_to_Dysglycaemia/25958185 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Biochemistry and cell biology Genetics Biomedical and clinical sciences Clinical sciences Medical biochemistry and metabolomics Fanconi–Bickel Syndrome (FBS) SLC2A2 mutation GLUT2 dysfunction dysglycaemia liver pancreatic β cell cAMP insulin secretion birth weight hepatomegaly |
| dc.title.none.fl_str_mv | Fanconi–Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p dir="ltr">Accumulation of glycogen in the kidney and liver is the main feature of Fanconi–Bickel Syndrome (FBS), a rare disorder of carbohydrate metabolism inherited in an autosomal recessive manner due to SLC2A2 gene mutations. Missense, nonsense, frame-shift (fs), in-frame indels, splice site, and compound heterozygous variants have all been identified in SLC2A2 gene of FBS cases. Approximately 144 FBS cases with 70 different SLC2A2 gene variants have been reported so far. SLC2A2 encodes for glucose transporter 2 (GLUT2) a low affinity facilitative transporter of glucose mainly expressed in tissues playing important roles in glucose homeostasis, such as renal tubular cells, enterocytes, pancreatic β-cells, hepatocytes and discrete regions of the brain. Dysfunctional mutations and decreased GLUT2 expression leads to dysglycaemia (fasting hypoglycemia, postprandial hyperglycemia, glucose intolerance, and rarely diabetes mellitus), hepatomegaly, galactose intolerance, rickets, and poor growth. The molecular mechanisms of dysglycaemia in FBS are still not clearly understood. In this review, we discuss the physiological roles of GLUT2 and the pathophysiology of mutants, highlight all of the previously reported SLC2A2 mutations associated with dysglycaemia, and review the potential molecular mechanisms leading to dysglycaemia and diabetes mellitus in FBS patients.</p><h2>Other Information</h2><p dir="ltr">Published in: International Journal of Molecular Sciences<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/10.3390/ijms21176286" target="_blank">https://dx.doi.org/10.3390/ijms21176286</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_dbca7b8daa65ea4a444ed76e4b690605 |
| identifier_str_mv | 10.3390/ijms21176286 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/25958185 |
| publishDate | 2020 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Fanconi–Bickel Syndrome: A Review of the Mechanisms That Lead to DysglycaemiaSanaa Sharari (12561952)Mohamad Abou-Alloul (18719020)Khalid Hussain (110443)Faiyaz Ahmad Khan (18719023)Biological sciencesBiochemistry and cell biologyGeneticsBiomedical and clinical sciencesClinical sciencesMedical biochemistry and metabolomicsFanconi–Bickel Syndrome (FBS)SLC2A2 mutationGLUT2 dysfunctiondysglycaemialiverpancreatic β cellcAMPinsulin secretionbirth weighthepatomegaly<p dir="ltr">Accumulation of glycogen in the kidney and liver is the main feature of Fanconi–Bickel Syndrome (FBS), a rare disorder of carbohydrate metabolism inherited in an autosomal recessive manner due to SLC2A2 gene mutations. Missense, nonsense, frame-shift (fs), in-frame indels, splice site, and compound heterozygous variants have all been identified in SLC2A2 gene of FBS cases. Approximately 144 FBS cases with 70 different SLC2A2 gene variants have been reported so far. SLC2A2 encodes for glucose transporter 2 (GLUT2) a low affinity facilitative transporter of glucose mainly expressed in tissues playing important roles in glucose homeostasis, such as renal tubular cells, enterocytes, pancreatic β-cells, hepatocytes and discrete regions of the brain. Dysfunctional mutations and decreased GLUT2 expression leads to dysglycaemia (fasting hypoglycemia, postprandial hyperglycemia, glucose intolerance, and rarely diabetes mellitus), hepatomegaly, galactose intolerance, rickets, and poor growth. The molecular mechanisms of dysglycaemia in FBS are still not clearly understood. In this review, we discuss the physiological roles of GLUT2 and the pathophysiology of mutants, highlight all of the previously reported SLC2A2 mutations associated with dysglycaemia, and review the potential molecular mechanisms leading to dysglycaemia and diabetes mellitus in FBS patients.</p><h2>Other Information</h2><p dir="ltr">Published in: International Journal of Molecular Sciences<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/10.3390/ijms21176286" target="_blank">https://dx.doi.org/10.3390/ijms21176286</a></p>2020-08-31T09:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.3390/ijms21176286https://figshare.com/articles/journal_contribution/Fanconi_Bickel_Syndrome_A_Review_of_the_Mechanisms_That_Lead_to_Dysglycaemia/25958185CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/259581852020-08-31T09:00:00Z |
| spellingShingle | Fanconi–Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia Sanaa Sharari (12561952) Biological sciences Biochemistry and cell biology Genetics Biomedical and clinical sciences Clinical sciences Medical biochemistry and metabolomics Fanconi–Bickel Syndrome (FBS) SLC2A2 mutation GLUT2 dysfunction dysglycaemia liver pancreatic β cell cAMP insulin secretion birth weight hepatomegaly |
| status_str | publishedVersion |
| title | Fanconi–Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia |
| title_full | Fanconi–Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia |
| title_fullStr | Fanconi–Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia |
| title_full_unstemmed | Fanconi–Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia |
| title_short | Fanconi–Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia |
| title_sort | Fanconi–Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia |
| topic | Biological sciences Biochemistry and cell biology Genetics Biomedical and clinical sciences Clinical sciences Medical biochemistry and metabolomics Fanconi–Bickel Syndrome (FBS) SLC2A2 mutation GLUT2 dysfunction dysglycaemia liver pancreatic β cell cAMP insulin secretion birth weight hepatomegaly |