Literature DB >> 29777474

Not quite type 1 or type 2, what now? Review of monogenic, mitochondrial, and syndromic diabetes.

Roseanne O Yeung1, Fady Hannah-Shmouni2, Karen Niederhoffer3, Mark A Walker4.   

Abstract

Diabetes mellitus is a heterogeneous group of conditions defined by resultant chronic hyperglycemia. Given the increasing prevalence of diabetes mellitus and the increasing understanding of genetic etiologies, we present a broad review of rare genetic forms of diabetes that have differing diagnostic and/or treatment implications from type 1 and type 2 diabetes. Advances in understanding the genotype-phenotype associations in these rare forms of diabetes offer clinically available examples of evolving precision medicine where defining the correct genetic etiology can radically alter treatment approaches. In this review, we focus on forms of monogenic diabetes, mitochondrial diabetes, and syndromic diabetes.

Entities:  

Keywords:  Diabetes mellitus; Maturity onset diabetes of the young (MODY); Mitochondrial diabetes; Monogenic diabetes; Syndromic diabetes

Mesh:

Year:  2018        PMID: 29777474     DOI: 10.1007/s11154-018-9446-3

Source DB:  PubMed          Journal:  Rev Endocr Metab Disord        ISSN: 1389-9155            Impact factor:   6.514


  121 in total

Review 1.  Monogenic diabetes: Implementation of translational genomic research towards precision medicine.

Authors:  Martine Vaxillaire; Philippe Froguel
Journal:  J Diabetes       Date:  2016-09-07       Impact factor: 4.006

2.  A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).

Authors:  H Inoue; Y Tanizawa; J Wasson; P Behn; K Kalidas; E Bernal-Mizrachi; M Mueckler; H Marshall; H Donis-Keller; P Crock; D Rogers; M Mikuni; H Kumashiro; K Higashi; G Sobue; Y Oka; M A Permutt
Journal:  Nat Genet       Date:  1998-10       Impact factor: 38.330

Review 3.  Lipodystrophic diabetes mellitus: a lesson for other forms of diabetes?

Authors:  Romina Ficarella; Luigi Laviola; Francesco Giorgino
Journal:  Curr Diab Rep       Date:  2015-03       Impact factor: 4.810

4.  Decreased mortality associated with the use of metformin compared with sulfonylurea monotherapy in type 2 diabetes.

Authors:  Jeffrey A Johnson; Sumit R Majumdar; Scot H Simpson; Ellen L Toth
Journal:  Diabetes Care       Date:  2002-12       Impact factor: 19.112

5.  Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD).

Authors:  P J Guillausseau; D Dubois-Laforgue; P Massin; M Laloi-Michelin; C Bellanné-Chantelot; H Gin; E Bertin; J F Blickle; B Bauduceau; B Bouhanick; J Cahen-Varsaux; S Casanova; G Charpentier; P Chedin; C Derrien; A Grimaldi; B Guerci; E Kaloustian; F Lorenzini; A Murat; F Olivier; M Paques; V Paquis-Flucklinger; A Tielmans; M Vincenot; B Vialettes; J Timsit
Journal:  Diabetes Metab       Date:  2004-04       Impact factor: 6.041

6.  TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report and review of the literature.

Authors:  Mehmet Akif Ozdemir; Mustafa Akcakus; Selim Kurtoglu; Tamer Gunes; Yasemin Altuner Torun
Journal:  Pediatr Diabetes       Date:  2002-12       Impact factor: 4.866

7.  The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.

Authors:  Elisa De Franco; Sarah E Flanagan; Jayne A L Houghton; Hana Lango Allen; Deborah J G Mackay; I Karen Temple; Sian Ellard; Andrew T Hattersley
Journal:  Lancet       Date:  2015-07-28       Impact factor: 79.321

8.  Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.

Authors:  Isabel Huang-Doran; Patsy Tomlinson; Felicity Payne; Alexandra Gast; Alison Sleigh; William Bottomley; Julie Harris; Allan Daly; Nuno Rocha; Simon Rudge; Jonathan Clark; Albert Kwok; Stefano Romeo; Emma McCann; Barbara Müksch; Mehul Dattani; Stefano Zucchini; Michael Wakelam; Lazaros C Foukas; David B Savage; Rinki Murphy; Stephen O'Rahilly; Inês Barroso; Robert K Semple
Journal:  JCI Insight       Date:  2016-10-20

Review 9.  The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.

Authors:  Rebecca J Brown; David Araujo-Vilar; Pik To Cheung; David Dunger; Abhimanyu Garg; Michelle Jack; Lucy Mungai; Elif A Oral; Nivedita Patni; Kristina I Rother; Julia von Schnurbein; Ekaterina Sorkina; Takara Stanley; Corinne Vigouroux; Martin Wabitsch; Rachel Williams; Tohru Yorifuji
Journal:  J Clin Endocrinol Metab       Date:  2016-10-06       Impact factor: 5.958

10.  Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF).

Authors:  Michele Pinelli; Fabio Acquaviva; Fabrizio Barbetti; Elisabetta Caredda; Sergio Cocozza; Maurizio Delvecchio; Enza Mozzillo; Daniele Pirozzi; Francesco Prisco; Ivana Rabbone; Lucia Sacchetti; Nadia Tinto; Sonia Toni; Stefano Zucchini; Dario Iafusco
Journal:  PLoS One       Date:  2013-11-11       Impact factor: 3.240

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  3 in total

Review 1.  How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young.

Authors:  Martine Vaxillaire; Philippe Froguel; Amélie Bonnefond
Journal:  Curr Diab Rep       Date:  2019-08-05       Impact factor: 4.810

Review 2.  Role of mitochondrial DNA in diabetes Mellitus Type I and Type II.

Authors:  Bandar Ali Al-Ghamdi; Jawhra M Al-Shamrani; Ahmed M El-Shehawi; Intisar Al-Johani; Bandar G Al-Otaibi
Journal:  Saudi J Biol Sci       Date:  2022-09-11       Impact factor: 4.052

3.  Management of mitochondrial diabetes in the era of novel therapies.

Authors:  Roseanne O Yeung; Mohammad Al Jundi; Sriram Gubbi; Maria E Bompu; Sandra Sirrs; Mark Tarnopolsky; Fady Hannah-Shmouni
Journal:  J Diabetes Complications       Date:  2020-04-13       Impact factor: 2.852

  3 in total

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