Evidence map›Paper›PMID 38990956›Full record

ArticlePloS one2024

Complete mitochondrial genomes of patients from Thailand with cardiovascular diseases.

Wipada Woravatin, Rattanasak Wongkomonched, Wichittra Tassaneeyakul, Mark Stoneking, Pattarapong Makarawate, Wibhu Kutanan

Abstract read
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Article in PloS one, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Wipada WoravatinDepartment of Biology, Faculty of Science, Khon Kaen University, Khon Kaen, Thailand.
Rattanasak WongkomonchedDepartment of Biology, Faculty of Science, Naresuan University, Phitsanulok, Thailand.
Wichittra TassaneeyakulDepartment of Pharmacology, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.
Mark StonekingDepartment of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
Pattarapong MakarawateDepartment of Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.
Wibhu KutananDepartment of Biology, Faculty of Science, Khon Kaen University, Khon Kaen, Thailand.ORCID 0000-0001-7767-1644

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Several previous studies have reported that both variation and haplogroups of mitochondrial (mt) DNA were associated with various kinds of diseases, including cardiovascular diseases, in different populations, but such studies have not been carried out in Thailand. Here, we sequenced complete mtDNA genomes from 82 patients diagnosed with three types of cardiovascular disease, i.e., Hypertrophic Cardiomyopathy (HCM) (n = 26), Long Q-T Syndrome (LQTS) (n = 7) and Brugada Syndrome (BrS) (n = 49) and compared these with 750 previously published mitogenome sequences from interviewed normal individuals as a control group. Both patient and control groups are from the same geographic region of northeastern Thailand. We found 9, 2, and 5 novel mutations that were not both damaging and deleterious in HCM, LQTS, and BrS patients, respectively. Haplogroup R9c was significantly associated with HCM (P = 0.0032; OR = 62.42; 95%CI = 6.892-903.4) while haplogroup M12b was significantly associated with LQTS (P = 0.0039; OR = 32.93; 95% CI = 5.784-199.6). None of the haplogroups was found to be significantly associated with BrS. A significantly higher density of mtDNA variants in the rRNA genes was found in patients with HCM and BrS (P < 0.001) than in those with LQTS or the control group. Effects of detected SNPs in either protein coding or tRNA genes of all the mitogenome sequences were also predicted. Interestingly, three SNPs in two tRNA genes (MT-TA m.5618T>C and m.5631G>A heteroplasmic variants in two BrS patients and MT-TQ m.4392C>T novel homoplasmic variant in a HCM patient) were predicted to alter tRNA secondary structure, possibly leading to abnormal tRNA function.

Indexed as

DNA, MitochondrialGenome, MitochondrialAdultAgedCardiomyopathy, HypertrophicCardiovascular DiseasesFemaleHaplotypesHumansMaleMiddle AgedMutationThailandYoung AdultDNA, Mitochondrial

Identifiers

PMID38990956
PMCPMC11239017

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