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

Yeung, Roseanne O.; Hannah‐Shmouni, Fady; Niederhoffer, Karen Y.; Walker, Mark

doi:10.1007/s11154-018-9446-3

Cited by 31 publications

(18 citation statements)

References 134 publications

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“…Monogenic forms of diabetes are due to highly penetrant single gene mutations and present across a clinical spectrum that includes MODY, mitochondrial diabetes and genetic syndromes that include diabetes as part of their clinical presentation 5 . Genetic variants of at least 14 known genes cause MODY through pancreatic beta cell dysfunction that leads to hyperglycaemia (Table 1).…”

Section: Discussionmentioning

confidence: 99%

Treatment implications of a delayed diagnosis of maturity‐onset diabetes of the young

Ali

Brown²,

Ekinci

2021

Internal Medicine Journal

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Maturity‐onset diabetes of the young (MODY) is a rare form of monogeneic diabetes that classically presents as non‐insulin requiring diabetes with evidence of autosomal dominant inheritance in individuals who are typically young and lean. However, these criteria do not capture all cases and can also overlap with other types of diabetes. The hepatocyte nuclear factor‐1 alpha (HNF1A) mutation is a common cause of MODY and is highly sensitive to sulphonylureas, which should be first‐line therapy. Our case represents the diagnostic challenges of HNF1A MODY and the implications of a delayed diagnosis, which can lead to reduced success of sulphonylurea treatment.

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Section: Discussionmentioning

confidence: 99%

Treatment implications of a delayed diagnosis of maturity‐onset diabetes of the young

Ali

Brown²,

Ekinci

2021

Internal Medicine Journal

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“…One of the first direct studies of human islets from an individual with a heterozygous missense variant in the HNF1A locus confirmed that loss-of-function variants of HNF1A lead to insulin-insufficient diabetes not through a significant loss of beta-cell mass but rather by impacting beta-cell transcriptional regulatory networks, resulting in the impairment of beta-cell pathways that are needed for a normal insulin response to glucose [22]. Heterozygous mutations of HNF1A that cause diabetes were first identified in 1996, and more than 400 different mutations have since been described [23]. These mutations include missense and nonsense mutations, insertions and duplications, deletions, insertion/deletions, promoter region mutations, and splice site mutations [24].…”

Section: Discussionmentioning

confidence: 99%

Maturity Onset Diabetes of the Young is Not Necessarily Associated with Autosomal Inheritance: Case Description of a De Novo HFN1A Mutation

Salzano

Passanisi

Mammì³

et al. 2019

Diabetes Ther

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Maturity onset diabetes of the young (MODY) accounts for up to 4% of all cases of diabetes in pediatric patients. MODY is usually characterized by autosomal dominant inheritance, impaired insulin secretion, and an average age at diagnosis of 18–26 years. Mutations in the hepatocyte nuclear factor 1-alpha (HNF1A), glucokinase, hepatocyte nuclear factor 4-alpha, and hepatocyte nuclear factor 1-beta genes are the mutations most frequently observed in cases of MODY. We herein report a case of HNF1A-MODY characterized by an early onset of diabetes. Genetic investigations revealed a de novo heterozygous substitution, N237D (HNF1A c.709A>G), in exon 3 of the HNF1A gene. Our case supports the hypothesis that de novo mutations are more frequent than expected. This recent evidence may suggest that conventional clinical diagnostic criteria for MODY should be revised and personalized according to the individual patient. Electronic Supplementary Material The online version of this article (10.1007/s13300-019-0633-3) contains supplementary material, which is available to authorized users.

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“…T1DM and T2DM are polygenic disorders, that is multiple genes contribute to their development [11,12]. Rare forms of diabetes mellitus (about 1% of cases) are single-gene disorders leading to beta cell or other defects [13].…”

Section: Genetics Of Diabetes Mellitusmentioning

confidence: 99%

The diabetes pandemic and associated infections: suggestions for clinical microbiology

Toniolo¹,

Cassani

Puggioni

et al. 2019

Reviews in Medical Microbiology

129

124

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There are 425 million people with diabetes mellitus in the world. By 2045, this figure will grow to over 600 million. Diabetes mellitus is classified among noncommunicable diseases. Evidence points to a key role of microbes in diabetes mellitus, both as infectious agents associated with the diabetic status and as possible causative factors of diabetes mellitus. This review takes into account the different forms of diabetes mellitus, the genetic determinants that predispose to type 1 and type 2 diabetes mellitus (especially those with possible immunologic impact), the immune dysfunctions that have been documented in diabetes mellitus. Common infections occurring more frequently in diabetic vs. nondiabetic individuals are reviewed. Infectious agents that are suspected of playing an etiologic/triggering role in diabetes mellitus are presented, with emphasis on enteroviruses, the hygiene hypothesis, and the environment. Among biological agents possibly linked to diabetes mellitus, the gut microbiome, hepatitis C virus, and prion-like protein aggregates are discussed. Finally, preventive vaccines recommended in the management of diabetic patients are considered, including the bacillus calmette-Guerin vaccine that is being tested for type 1 diabetes mellitus. Evidence supports the notion that attenuation of immune defenses (both congenital and secondary to metabolic disturbances as well as to microangiopathy and neuropathy) makes diabetic people more prone to certain infections. Attentive microbiologic monitoring of diabetic patients is thus recommendable. As genetic predisposition cannot be changed, research needs to identify the biological agents that may have an etiologic role in diabetes mellitus, and to envisage curative and preventive ways to limit the diabetes pandemic.

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

Cited by 31 publications

References 134 publications

Treatment implications of a delayed diagnosis of maturity‐onset diabetes of the young

Treatment implications of a delayed diagnosis of maturity‐onset diabetes of the young

Maturity Onset Diabetes of the Young is Not Necessarily Associated with Autosomal Inheritance: Case Description of a De Novo HFN1A Mutation

The diabetes pandemic and associated infections: suggestions for clinical microbiology

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