Frequency and genetic spectrum of maturity-onset diabetes of the young (MODY) in southern New Zealand

Wheeler, Benjamin J; Patterson, Nicola; Love, Donald R.; Prosser, D; Tomlinson, Paul; Taylor, B. J.; Manning, Patrick J.

doi:10.1186/2251-6581-12-46

Cited by 12 publications

(12 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…On the other hand, monogenic forms of the disease, like Maturity Onset Diabetes of the Young (MODY), are determined mostly by genetic factors, with minor effect of the environment. HNF1A-MODY is one of the most common forms of subtypes of MODY [12, 13]. It is caused by mutation in HNF1A (Hepatic Nuclear Factor 1 Alpha) gene.…”

Section: Introductionmentioning

confidence: 99%

Qualitative Parameters of the Colonic Flora in Patients with HNF1A-MODY Are Different from Those Observed in Type 2 Diabetes Mellitus

Mrozińska

Radkowski

Szopa

et al. 2016

Journal of Diabetes Research

View full text Add to dashboard Cite

Background. Type 2 diabetes mellitus (T2DM) is determined by genetic and environmental factors. There have been many studies on the relationship between the composition of the gastrointestinal bacterial flora, T2DM, and obesity. There are no data, however, on the gut microbiome structure in monogenic forms of the disease including Maturity Onset Diabetes of the Young (MODY). Methods. The aim of the investigation was to compare the qualitative parameters of the colonic flora in patients with HNF1A-MODY and T2DM and healthy individuals. 16S sequencing of bacterial DNA isolated from the collected fecal samples using the MiSeq platform was performed. Results. There were significant between-group differences in the bacterial profile. At the phylum level, the amount of Proteobacteria was higher (p = 0.0006) and the amount of Bacteroidetes was lower (p = 0.0005) in T2DM group in comparison to the control group. In HNF1A-MODY group, the frequency of Bacteroidetes was lower than in the control group (p = 0.0143). At the order level, Turicibacterales was more abundant in HNF1A-MODY group than in T2DM group. Conclusions. It appears that there are differences in the gut microbiome composition between patients with HNF1A-MODY and type 2 diabetes. Further investigation on this matter should be conducted.

show abstract

Section: Introductionmentioning

confidence: 99%

Qualitative Parameters of the Colonic Flora in Patients with HNF1A-MODY Are Different from Those Observed in Type 2 Diabetes Mellitus

Mrozińska

Radkowski

Szopa

et al. 2016

Journal of Diabetes Research

View full text Add to dashboard Cite

show abstract

“…These consisted of 16 missense, two nonsense, one frameshift, and one synonymous variant. Thirteen variants have already been reported in MODY patients, namely GCK c.130G>A [15], GCK c.386G>A [16], GCK c.544G>A [17], GCK c.556C>T [18], GCK c.698G>A [19], GCK c.757G>C [20], GCK c.1099G>A [21], GCK c.1268T>A [22], HNF1A c.425C>T [23], HNF1A c.475C>T [24], HNF1A c.511C>T [23], HNF1A c.521C>T [25], and HNF1A c.607C>A [26].…”

Section: Resultsmentioning

confidence: 99%

“…The 23 identified mutations consisted of 20 unique mutations and three recurrent mutations (i.e., occurring in more than one family). Of these 20 different mutations, 13 have already been reported in MODY [15][16][17][18][19][20][21][22][23][24][25][26]. The remaining seven mutations (GCK c.494T>C, GCK c.563C>G, HNF1A c.1623G>A, HNF1A c.1729C>G, HNF4A c.68delG, HNF4A c.422G>C, HNF4A c.602A>C) have not previously been reported, and are therefore novel mutations.…”

Section: Discussionmentioning

confidence: 99%

Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations

Alvelos

Gonçalves

Coutinho

et al. 2020

JCM

View full text Add to dashboard Cite

Maturity-onset diabetes of the young (MODY) is a frequently misdiagnosed type of diabetes, which is characterized by early onset, autosomal dominant inheritance, and absence of insulin dependence. The most frequent subtypes are due to mutations of the GCK (MODY 2), HNF1A (MODY 3), and HNF4A (MODY 1) genes. We undertook the first multicenter genetic study of MODY in the Portuguese population. The GCK, HNF1A, and HNF4A genes were sequenced in 46 unrelated patients that had at least two of the three classical clinical criteria for MODY (age at diagnosis, family history, and clinical presentation). The functional consequences of the mutations were predicted by bioinformatics analysis. Mutations were identified in 23 (50%) families. Twelve families had mutations in the GCK gene, eight in the HNF1A gene, and three in the HNF4A gene. These included seven novel mutations (GCK c.494T>C, GCK c.563C>G, HNF1A c.1623G>A, HNF1A c.1729C>G, HNF4A c.68delG, HNF4A c.422G>C, HNF4A c.602A>C). Mutation-positive patients were younger at the time of diagnosis when compared to mutation-negative patients (14.3 vs. 23.0 years, p = 0.011). This study further expands the spectrum of known mutations associated with MODY, and may contribute to a better understanding of this type of diabetes and a more personalized clinical management of affected individuals.

show abstract

“…The minimum prevalence of MODY was reported to be 1.1-4.2% of patients with diabetes or 2.4-4.6 cases per 100,000 [9][10][11][12][13][14][15][16]. In Russian population the frequency of MODY 2 and MODY 3 possibly are the same unlike in other countries [17].…”

Section: Mody Incidence and Prevalencementioning

confidence: 99%

“…All of the curent data show that MODY is distributed unequally in different countries thus each country should perform its own population studies in order to determine the prevalence of the disease in the population [9][10][11][12].…”

Section: Mody Incidence and Prevalencementioning

confidence: 99%

Maturity onset diabetes of the young: Diagnosis and treatment options

Covanţev¹,

Chiriac²,

Perciuleac³

et al. 2016

Russ. Open Med. J.

View full text Add to dashboard Cite

Diabetes is a complicated disease, so multiple factors are involved in its development. Nevertheless some of the patients with type 1 and 2 diabetes mellitus have a monogenic form of this disease which has different treatment options and usually fewer complications. It is estimated that about 5% of patients with type 2 diabetes melitus (T2DM) and about 10% of type 1 diabetes melitus (T1DM) are misdiagnosed and have maturity onset diabetes of the young (MODY). We present a review study of the management of most frequent monogenic forms of diabetes such as MODY 1, 2 and 3 and the possibilities of their diagnosis including in resource limited situations.

show abstract

Frequency and genetic spectrum of maturity-onset diabetes of the young (MODY) in southern New Zealand

Cited by 12 publications

References 10 publications

Qualitative Parameters of the Colonic Flora in Patients with HNF1A-MODY Are Different from Those Observed in Type 2 Diabetes Mellitus

Qualitative Parameters of the Colonic Flora in Patients with HNF1A-MODY Are Different from Those Observed in Type 2 Diabetes Mellitus

Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations

Maturity onset diabetes of the young: Diagnosis and treatment options

Contact Info

Product

Resources

About