Evidence map›Paper›PMID 31143779›Full record

ArticleJournal of diabetes research2019

De Novo Mutation of m.3243A>G together with m.16093T>C Associated with Atypical Clinical Features in a Pedigree with MIDD Syndrome.

Zhixin Jiang, Yinan Zhang, Jingbin Yan, Fengwen Li, Xinqian Geng, Huijuan Lu, Xiaoer Wei, Yanmei Feng, Congrong Wang, Weiping Jia

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of diabetes research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.8field-weighted citation impact, top 25% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 9 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 1 institution in 1 country.

Zhixin JiangShanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Department of Endocrinology and Metabolism, Shanghai 200233, China.
Yinan ZhangShanghai Jiao Tong University Affiliated Sixth People's Hospital, The Metabolic Diseases Biobank, Center for Translational Medicine, Shanghai Key Laboratory of Diabetes, Shanghai 200233, China.ORCID 0000-0002-0357-3926
Jingbin YanShanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiao Tong University, The Key Laboratory of Embryo Molecular Biology, Ministry of Health of China & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai 200040, China.
Fengwen LiShanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Department of Endocrinology and Metabolism, Shanghai 200233, China.
Xinqian GengShanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Department of Endocrinology and Metabolism, Shanghai 200233, China.
Huijuan LuShanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Department of Endocrinology and Metabolism, Shanghai 200233, China.
Xiaoer WeiShanghai Jiao Tong University Affiliated Sixth People's Hospital, Department of Diagnostic Radiology, Shanghai 200233, China.
Yanmei FengShanghai Jiao Tong University Affiliated Sixth People's Hospital, Department of Otolaryngology Head and Neck Surgery, Shanghai 200233, China.ORCID 0000-0003-4180-6564
Congrong WangShanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Department of Endocrinology and Metabolism, Shanghai 200233, China.ORCID 0000-0002-8645-1114
Weiping JiaShanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Department of Endocrinology and Metabolism, Shanghai 200233, China.
Shanghai Jiao Tong University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe syndrome of maternally inherited diabetes and deafness (MIDD) is typically caused by the m.3243A>G mutation and widely considered maternally inherited. In our study, we aimed to investigate the heredity way of the m.3243A>G among pedigrees with MIDD and discover novel mitochondrial DNA mutations related to atypical clinical phenotypes.

methodsHeteroplasmy levels of the m.3243A>G mutation in peripheral blood, saliva, and urine sediment of 31 individuals from 10 unrelated pedigrees were measured by pyrosequencing. Clinical evaluations including endocrinological, audiological, and magnetic resonance imaging (MRI) examinations, mitochondrial function evaluation in peripheral blood mononuclear cells (PBMCs), and whole mitochondrial DNA (mtDNA) sequencing were performed among the spontaneous mutant pedigrees.

resultsAmong the 10 unrelated MIDD pedigrees, we found that the de novo m.3243A>G mutation occurred in the family 1957 (F1957). The proband (F1957-II-1) and her son (F1957-III-1) both manifested diabetes with mild bilateral sensorineural hearing loss (SNHL) and abnormal brain MRI, and F1957-III-1 also complained of severe nausea and vomiting. Mitochondrial function evaluation in PBMCs revealed an increased level of ROS generation and decreased levels of ATP and mitochondrial membrane potential (ΔΨm) in the two m.3243A>G carriers. Whole mtDNA sequencing also revealed a de novo heteroplasmic substitution at m.16093T>C in both the proband and her son.

conclusionsOur study showed that de novo m.3243A>G mutation accompanied by other point mutations may occur in the very early embryonic or germ cell stage without maternal inheritance, bringing about both typical and atypical clinical features.

Indexed as

Adenosine TriphosphateAdultAgedAged, 80 and overDeafnessDiabetes Mellitus, Type 2DNA, MitochondrialFamily HealthFemaleGenetic Predisposition to DiseaseHumansLeucineLeukocytes, MononuclearMagnetic Resonance ImagingMaleMiddle AgedAdenosine TriphosphateDNA, MitochondrialLeucineReactive Oxygen SpeciesRNA, Transfer

Identifiers

PMID31143779
PMCPMC6476128
OpenAlexW2933485012

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.