A follow-up during puberty in a Japanese girl with type A insulin resistance due to a novel mutation in &lt;i&gt;INSR&lt;/i&gt;

Saito-Hakoda, Akiko; Nishii, Aki; Uchida, Takashi; Kikuchi, Atsuo; Kanno, Junko; Fujiwara, Ikuma; Kure, Shigeo

doi:10.1297/cpe.27.53

Cited by 7 publications

(3 citation statements)

References 6 publications

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“…In particular, a synonymous exonic SNV within INSR gene was found, which was identified by all three methods with extremely high signal values. In the meanwhile, a novel heterozygous nonsense mutation in exon 2 of INSR was found in humans in a previous report (Saito-Hakoda et al 2018), which causes type A insulin resistance. Interestingly, all Duroc pigs were homozygous wild type genotypes, and heterozygous mutations existed only in the Meishan and Tibetan pig populations.…”

Section: Discussionmentioning

confidence: 92%

Genome-Wide Detection of Selection Signatures in Duroc Revealed Candidate Genes Relating to Growth and Meat Quality

Yu¹,

Zhao²,

Zheng³

et al. 2020

G3 Genes|Genomes|Genetics

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With the development of high-throughput genotyping techniques, selection signatures in the genome of domestic pigs have been extensively interrogated in the last decade. The Duroc, a major commercial pig breed famous for its fast growth rate and high lean ratio, has not been extensively studied focusing on footprints of intensively artificial selection in their genomes by a lot of re-sequencing data. The goal of this study was to investigate genomic regions under artificial selection and their contribution to the unique phenotypic traits of the Duroc using whole-genome resequencing data from 97 pigs. Three complementary methods (di, CLR, and iHH12) were implemented for selection signature detection. In Total, 464 significant candidate regions were identified, which covered 46.4 Mb of the pig genome. Within the identified regions, 709 genes were annotated, including 600 candidate protein-coding genes (486 functionally annotated genes) and 109 lncRNA genes. Genes undergoing selective pressure were significantly enriched in the insulin resistance signaling pathway, which may partly explain the difference between the Duroc and other breeds in terms of growth rate. The selection signatures identified in the Duroc population demonstrated positive pressures on a set of important genes with potential functions that are involved in many biological processes. The results provide new insights into the genetic mechanisms of fast growth rate and high lean mass, and further facilitate follow-up studies on functional genes that contribute to the Duroc's excellent phenotypic traits.

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Section: Discussionmentioning

confidence: 92%

Genome-Wide Detection of Selection Signatures in Duroc Revealed Candidate Genes Relating to Growth and Meat Quality

Yu¹,

Zhao²,

Zheng³

et al. 2020

G3 Genes|Genomes|Genetics

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“…Many questions about genotype-stratified treatment were not addressed While many other interesting and clinically relevant questions arise about other potential genotype-specific responses to therapy in monogenic IR, the small size or absence of other genotype by treatment groups precluded the drawing of conclusions about risks and benefits, including for very widely used medications such as metformin 25,[43][44][45] , newer agents commonly used in type 2 diabetes including SGLT2 inhibitors 46,47 and GLP1 agonists, and non pharmacologic interventions such as bariatric surgery [48][49][50] .…”

Section: Thiazolidinedione Treatment Showed Variable Efficacy In Limi...mentioning

confidence: 99%

Systematic review of genotype-stratified treatment for monogenic insulin resistance

Semple

Patel

Auh

et al. 2023

Preprint

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ObjectiveTo assess the effects of pharmacologic and/or surgical interventions in monogenic insulin resistance (IR), stratified by genetic aetiology.DesignSystematic review.Data sourcesPubMed, MEDLINE and Embase, from 1 January 1987 to 23 June 2021.Review methodsStudies reporting individual-level effects of pharmacologic and/or surgical interventions in monogenic IR were eligible. Individual subject data were extracted and duplicate data removed. Outcomes were analyzed for each affected gene and intervention, and in aggregate for partial, generalised and all lipodystrophy.Results10 non-randomised experimental studies, 8 case series, and 21 single case reports met inclusion criteria, all rated as having moderate or serious risk of bias. Metreleptin was associated with lower triglycerides and hemoglobin A1c in aggregated lipodystrophy (n=111), in partial lipodystrophy (n=71) and generalised lipodystrophy (n=41)), and inLMNA,PPARG,AGPAT2orBSCL2subgroups (n=72,13,21 and 21 respectively). Body Mass Index (BMI) was lower after treatment in partial and generalised lipodystrophy overall, and inLMNA or BSCL2, but notPPARGorAGPAT2subgroups. Thiazolidinedione use was associated with improved hemoglobin A1c and triglycerides in aggregated lipodystrophy (n=13), improved hemoglobin A1c only in thePPARGsubgroup (n=5), and improved triglycerides only in theLMNAsubgroup (n=7). InINSR-related IR, use of rhIGF-1, alone or with IGFBP3, was associated with improved hemoglobin A1c (n=15). The small size or absence of all other genotype-treatment combinations precluded firm conclusions.ConclusionsThe evidence guiding genotype-specific treatment of monogenic IR is of low to very low quality. Metreleptin and Thiazolidinediones appear to have beneficial metabolic effects in lipodystrophy, and rhIGF-1 appears to lower hemoglobin A1c in INSR-related IR. For other interventions there is insufficient evidence to assess efficacy and risks either in aggregated lipodystrophy or in genetic subgroups. There is a pressing need to improve the evidence base for management of monogenic IR.

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“…Measurement of fasting insulin levels in 89 adult Japanese patients with type 2 diabetes and a body mass index of <25 kg/m 2 revealed no cases with a fasting insulin level of >30 μU/mL [11]. However, depending on the course of treatment, some cases of genetic insulin resistance syndrome manifest fasting insulin concentrations of <30 μU/mL [22,23].…”

Section: Diagnostic Criteria For Genetic Insulinmentioning

confidence: 99%

New classification and diagnostic criteria for insulin resistance syndrome

et al. 2022

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This report of a working group established by the Japan Diabetes Society proposes a new classification and diagnostic criteria for insulin resistance syndrome. Insulin resistance syndrome is defined as a condition characterized by severe attenuation of insulin action due to functional impairment of the insulin receptor or its downstream signaling molecules. This syndrome is classified into two types: genetic insulin resistance syndrome, caused by gene abnormalities, and type B insulin resistance syndrome, caused by autoantibodies to the insulin receptor. Genetic insulin resistance syndrome includes type A insulin resistance as well as Donohue and Rabson-Mendenhall syndromes, all of which are caused by abnormalities of the insulin receptor gene; conditions such as SHORT syndrome caused by abnormalities of PIK3R1, which encodes a regulatory subunit of phosphatidylinositol 3-kinase; conditions caused by abnormalities of AKT2, TBC1D4, or PRKCE; and conditions in which a causative gene has not yet been identified. Type B insulin resistance syndrome is characterized by severe impairment of insulin action due to the presence of insulin receptor autoantibodies. Cases in which hypoglycemia alone is induced by autoantibodies that stimulate insulin receptor were not included in Type B insulin resistance syndrome.

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A follow-up during puberty in a Japanese girl with type A insulin resistance due to a novel mutation in <i>INSR</i>

Cited by 7 publications

References 6 publications

Genome-Wide Detection of Selection Signatures in Duroc Revealed Candidate Genes Relating to Growth and Meat Quality

Genome-Wide Detection of Selection Signatures in Duroc Revealed Candidate Genes Relating to Growth and Meat Quality

Systematic review of genotype-stratified treatment for monogenic insulin resistance

New classification and diagnostic criteria for insulin resistance syndrome

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