This preprint is under consideration at BMC Medical Genetics. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research article
Associations of Mitochondrial DNA 3777-4679 region mutations with maternally inherited essential hypertensive subjects in China.
Ye Zhu
Yangzhou University
Corresponding Author
ORCiD: https://orcid.org/0000-0003-0865-3260
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background: Nuclear genome or family mitochondrial screening system has become the hot focus of studies into essential hypertension. The role of mitochondrial DNA (mtDNA) in sporadic Chinese patients with hypertension has not been fully understood. The study was to evaluate the associations of mtDNA mutations with maternally inherited essential hypertensive subjects in China.
Methods: From June 2009 to June 2016, a total of 800 gender-matched Chinese patients with maternally inherited essential hypertension (MIEH) and control group were 1:1 enrolled in this case-control study. Genomic DNA was extracted from each person's peripheral blood cells. The main mtDNA locations for MIEH were screened with oligodeoxynucleotides 3777-4679bp, analyzed and compared with the updated consensus Cambridge Sequence. Pathogenic mtDNA mutations were identified from the mitochondrial map.
Results: MIEH subjects presented significantly higher values than those of control group in abdominal circumference(AC), waist circumference(WC), body mass index(BMI), fasting blood glucose(FBG), triglyceride(TG), low-density lipoprotein cholesterol (LDL) and renal function (P<0.05). MIEH subjects carried more amino acid changes and coding sequence variants (P<0.01) than control group. The allele frequencies of the eight single nucleotide polymorphisms(SNPs) were significantly different between the two groups, including m.3970 C>T, m.4048G>A, m.4071C>T, m.4086C>T, m. 4164A>G and m.4248T>C in ND1 gene, and m.4386T>C and m.4394C>T in tRNAGln gene(P<0.001). Fifty-five homoplasmic or heteroplasmic mutations were detected in 5 genes: ND1, tRNAIle, tRNAMet, tRNAGln and ND2 gene. The ND1 gene was the main mutation site, where the most mtDNA mutation was m.3970 C>T.
Conclusions: The mtDNA mutations were involved in the process of MIEH. We identified mitochondrial genetic characteristics in MIEH patients in China. The present research serves as a solid foundation for further detailed research on the association between MIEH and mitochondrial dysfunction, and their causal relationship in Chinese and other populations with a similar lifestyle.
Keywords
Mitochondria; DNA; mutation; essential hypertension; maternal inheritance.
Figure 1
Figure 2
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Under Review
Version 4
Posted 15 Apr, 2020
No community comments so far
Editor assigned
On 14 Apr, 2020
Submission checks complete
On 14 Apr, 2020
Editorial decision: Minor revision
On 14 Apr, 2020
Editor invited
On 13 Apr, 2020
No comments provided
Submission checks complete
On 07 Apr, 2020
Editorial decision: Minor revision
On 07 Apr, 2020
No comments provided
Editorial decision: Minor revision
On 04 Apr, 2020
Reviewer #1 agreed
On 06 Mar, 2020
Review #1 received
Received 06 Mar, 2020
Editor assigned
On 05 Mar, 2020
Reviewers invited
Invitations sent on 05 Mar, 2020
Submission checks complete
On 04 Mar, 2020
Editor invited
On 04 Mar, 2020
No comments provided
Editorial decision: Minor revision
On 23 Feb, 2020
Review #2 received
Received 09 Feb, 2020
Reviewer #2 agreed
On 08 Feb, 2020
Review #1 received
Received 15 Dec, 2019
Reviewer #1 agreed
On 22 Nov, 2019
Reviewers invited
Invitations sent on 21 Nov, 2019
Editor assigned
On 23 Sep, 2019
Submission checks complete
On 22 Sep, 2019
Editor invited
On 22 Sep, 2019
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Medical Genetics
Learn more about our company.
This preprint is under consideration at BMC Medical Genetics. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research article
Associations of Mitochondrial DNA 3777-4679 region mutations with maternally inherited essential hypertensive subjects in China.
Ye Zhu
Yangzhou University
Corresponding Author
ORCiD: https://orcid.org/0000-0003-0865-3260
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Under Review
Version 4
Posted 15 Apr, 2020
No community comments so far
Editor assigned
On 14 Apr, 2020
Submission checks complete
On 14 Apr, 2020
Editorial decision: Minor revision
On 14 Apr, 2020
Editor invited
On 13 Apr, 2020
No comments provided
Submission checks complete
On 07 Apr, 2020
Editorial decision: Minor revision
On 07 Apr, 2020
No comments provided
Editorial decision: Minor revision
On 04 Apr, 2020
Reviewer #1 agreed
On 06 Mar, 2020
Review #1 received
Received 06 Mar, 2020
Editor assigned
On 05 Mar, 2020
Reviewers invited
Invitations sent on 05 Mar, 2020
Submission checks complete
On 04 Mar, 2020
Editor invited
On 04 Mar, 2020
No comments provided
Editorial decision: Minor revision
On 23 Feb, 2020
Review #2 received
Received 09 Feb, 2020
Reviewer #2 agreed
On 08 Feb, 2020
Review #1 received
Received 15 Dec, 2019
Reviewer #1 agreed
On 22 Nov, 2019
Reviewers invited
Invitations sent on 21 Nov, 2019
Editor assigned
On 23 Sep, 2019
Submission checks complete
On 22 Sep, 2019
Editor invited
On 22 Sep, 2019
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Medical Genetics
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background: Nuclear genome or family mitochondrial screening system has become the hot focus of studies into essential hypertension. The role of mitochondrial DNA (mtDNA) in sporadic Chinese patients with hypertension has not been fully understood. The study was to evaluate the associations of mtDNA mutations with maternally inherited essential hypertensive subjects in China.
Methods: From June 2009 to June 2016, a total of 800 gender-matched Chinese patients with maternally inherited essential hypertension (MIEH) and control group were 1:1 enrolled in this case-control study. Genomic DNA was extracted from each person's peripheral blood cells. The main mtDNA locations for MIEH were screened with oligodeoxynucleotides 3777-4679bp, analyzed and compared with the updated consensus Cambridge Sequence. Pathogenic mtDNA mutations were identified from the mitochondrial map.
Results: MIEH subjects presented significantly higher values than those of control group in abdominal circumference(AC), waist circumference(WC), body mass index(BMI), fasting blood glucose(FBG), triglyceride(TG), low-density lipoprotein cholesterol (LDL) and renal function (P<0.05). MIEH subjects carried more amino acid changes and coding sequence variants (P<0.01) than control group. The allele frequencies of the eight single nucleotide polymorphisms(SNPs) were significantly different between the two groups, including m.3970 C>T, m.4048G>A, m.4071C>T, m.4086C>T, m. 4164A>G and m.4248T>C in ND1 gene, and m.4386T>C and m.4394C>T in tRNAGln gene(P<0.001). Fifty-five homoplasmic or heteroplasmic mutations were detected in 5 genes: ND1, tRNAIle, tRNAMet, tRNAGln and ND2 gene. The ND1 gene was the main mutation site, where the most mtDNA mutation was m.3970 C>T.
Conclusions: The mtDNA mutations were involved in the process of MIEH. We identified mitochondrial genetic characteristics in MIEH patients in China. The present research serves as a solid foundation for further detailed research on the association between MIEH and mitochondrial dysfunction, and their causal relationship in Chinese and other populations with a similar lifestyle.
Figure 1
Figure 2