scholarly journals Associations of Mitochondrial DNA 3777-4679 region mutations with maternally inherited essential hypertensive subjects in China.

2020 ◽  
Author(s):  
Ye Zhu ◽  
Jia You ◽  
Chao Xu ◽  
Xiang Gu
Keyword(s):  
Mitochondrial Dna ◽  
Essential Hypertension ◽  
Fasting Blood Glucose ◽  
Chinese Patients ◽  
Abdominal Circumference ◽  
Control Group ◽  
Mtdna Mutation ◽  
Mutation Site ◽  
Genetic Characteristics ◽  
Mtdna Mutations

Abstract 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.

scholarly journals Associations of mitochondrial DNA 3777–4679 region mutations with maternally inherited essential hypertensive subjects in China

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Ye Zhu ◽  
Jia You ◽  
Chao Xu ◽  
Xiang Gu
Keyword(s):  
Mitochondrial Dna ◽  
Essential Hypertension ◽  
Fasting Blood Glucose ◽  
Chinese Patients ◽  
Abdominal Circumference ◽  
Control Group ◽  
Mtdna Mutation ◽  
Mutation Site ◽  
Genetic Characteristics ◽  
Mtdna Mutations

Abstract 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 3777-4679 bp, 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.4248 T > C in ND1 gene, and m.4386 T > 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.

scholarly journals Associations of Mitochondrial DNA 3777-4679 region mutations with maternally inherited essential hypertensive subjects in China.

2019 ◽  
Author(s):  
Ye Zhu ◽  
Jia You ◽  
Chao Xu ◽  
Xiang Gu
Keyword(s):  
Mitochondrial Dna ◽  
Essential Hypertension ◽  
Fasting Blood Glucose ◽  
Chinese Patients ◽  
Abdominal Circumference ◽  
Control Group ◽  
Mtdna Mutation ◽  
Mutation Site ◽  
Genetic Characteristics ◽  
Mtdna Mutations

Abstract 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 (MIEH) 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 C3970T, G4048A, C4071T, C4086T, A4164G and T4248C in ND1 gene, and T4386C and C4394T in tRNA Gln gene( P <0.001). Fifty-five homoplasmic or heteroplasmic mutations were detected in 5 genes: ND1, tRNA Ile , tRNA Met , tRNA Gln and ND2 gene. The ND1 gene was the main mutation site, where the most mtDNA mutation was C3970T. Conclusions: The results convincingly proved that 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.

scholarly journals Associations of Mitochondrial DNA 3777-4679 region mutations with maternally inherited essential hypertensive subjects in China.

2020 ◽  
Author(s):  
Ye Zhu ◽  
Jia You ◽  
Chao Xu ◽  
Xiang Gu
Keyword(s):  
Mitochondrial Dna ◽  
Essential Hypertension ◽  
Fasting Blood Glucose ◽  
Chinese Patients ◽  
Abdominal Circumference ◽  
Control Group ◽  
Mtdna Mutation ◽  
Mutation Site ◽  
Genetic Characteristics ◽  
Mtdna Mutations

Abstract 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 tRNA Gln gene( P <0.001). Fifty-five homoplasmic or heteroplasmic mutations were detected in 5 genes: ND1, tRNA Ile , tRNA Met , tRNA Gln 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.

scholarly journals Associations of Mitochondrial DNA 3777-4679 region mutations with maternally inherited essential hypertensive subjects in China.

2020 ◽  
Author(s):  
Ye Zhu ◽  
Jia You ◽  
Chao Xu ◽  
Xiang Gu
Keyword(s):  
Mitochondrial Dna ◽  
Essential Hypertension ◽  
Fasting Blood Glucose ◽  
Chinese Patients ◽  
Abdominal Circumference ◽  
Control Group ◽  
Mtdna Mutation ◽  
Mutation Site ◽  
Genetic Characteristics ◽  
Mtdna Mutations

Abstract 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.

scholarly journals Mitochondrial DNA Mutations Associated with Essential Hypertension in Xin Jiang Han Chinese Population

2020 ◽  
Author(s):  
Wenxi Jiang ◽  
Qiang Lü ◽  
Ronghui Li ◽  
Panpan Wang ◽  
Guangle Shan ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Essential Hypertension ◽  
Chinese Han Population ◽  
12S Rrna ◽  
Mtdna Mutation ◽  
Chinese Han ◽  
Genetic Characteristics ◽  
Han Population ◽  
Functional Changes ◽  
Mtdna Sequence

Abstract Background: Genetic factors contribute to essential hypertension (EH) etiology, however, causal genes haven’t been identified. Mitochondrial dysfunction is common in EH. However, evidence supporting mitochondrial DNA (mtDNA) mutation involved in EH in Chinese Han is lacking. We aimed to characterize relationship between mtDNA mutation and EH in China.Methods: Totally 216 individuals including 151 EH patients and 65 controls from Chinese Han population in Xinjiang were sequenced for whole mtDNA genome. Novel variations and haplogroups were identified for each mtDNA sequence. Frequencies of gene mutations were compared between cases and controls, and functional changes of mtDNA genes associated with EH were predicted.Results: Haplogroups of Chinese Han population in Xinjiang were consistent with those in northern China. No association of mitochondrial haplogroup with EH was observed. Nine novel variations and three EH-associated mutations were identified. Variants in mutation m.12361A>G, m15662A>G and m.1598G>A were predicted to affect functions of ND5, CYTB and 12S rRNA, respectively.Conclusions: Our results have provided a new clue for mitochondrial genetic characteristics in etiology of EH in Chinese Han population in Xinjiang.

Abstract 17097: Non-Synonymous Mitochondrial DNA Variants Are Common in Myocardial Tissue of Heart Failure Patients

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Pappu Ananya ◽  
Michael Binder ◽  
Yang Wanjun ◽  
Rebecca McClellan ◽  
Brittney Murray ◽  
...  
Keyword(s):  
Heart Failure ◽  
Mitochondrial Dna ◽  
Nuclear Dna ◽  
Left Ventricular ◽  
Individual Risk ◽  
Myocardial Tissue ◽  
Mtdna Mutation ◽  
Mtdna Mutations ◽  
Ventricular Tissue ◽  
Mtdna Variants

Introduction: Mitochondrial heart disease due to pathogenic mitochondrial DNA (mtDNA) mutations can present as hypertrophic or dilated cardiomyopathy, ventricular arrhythmias and conduction disease. It is estimated that the mutation rate of mtDNA is 10 to 20-fold higher than that of nuclear DNA genes due to damage from reactive oxygen species released as byproducts during oxidative phosphorylation. When a new mtDNA mutation arises, it creates an intracellular heteroplasmic mixture of mutant and normal mtDNAs, called heteroplasmy. Heteroplasmy levels can vary in various tissues and examining mtDNA variants in blood may not be representative for the heart. The frequency of pathogenic mtDNA variants in myocardial tissues in unknown. Hypothesis: Human ventricular tissue may contain mtDNA mutations which can lead to alterations in mitochondrial function and increase individual risk for heart failure. Methods: Mitochondrial DNA was isolated from 61 left ventricular myocardial samples obtained from failing human hearts at the time of transplantation. mtDNA was sequenced with 23 primer pairs. In silico prediction of non-conservative missense variants was performed via PolyPhen-2. Heteroplasmy levels of variants predicted to be pathogenic were quantified using allele-specific ARMS-PCR. Results: We identified 21 mtDNA non-synonymous variants predicted to be pathogenic in 17 hearts. Notably, one heart contained four pathogenic mtDNA variants (ATP6: p.M104; ND5: p.P265S; ND4: p.N390S and p.L445F). Heteroplasmy levels exceeded 90% for all four variants in myocardial tissue and were significantly lower in blood. No pathogenic mtDNA variants were identified in 44 hearts. Hearts with mtDNA mutations had higher levels of myocardial GDF-15 (growth differentiation factor-15; 6.2±2.3 vs. 1.3±0.18, p=0.045), an established serum biomarker in various mitochondrial diseases. Conclusions: Non-synonymous mtDNA variants predicted to be pathogenic are common in human left ventricular tissue and may be an important modifier of the heart failure phenotype. Future studies are necessary to correlate myocardial mtDNA mutations with cardiovascular outcomes and to assess whether serum GDF-15 allows identifying patients with myocardial mtDNA mutations.

scholarly journals Mitochondrial DNA 4977 bp Deletion in Chronic Cervicitis and Cervix Cancers

2012 ◽  
Vol 15 (1) ◽  
pp. 25-29 ◽  
Author(s):  
M Kara ◽  
A Tatar ◽  
B Borekci ◽  
F Dagli ◽  
S Oztas
Keyword(s):  
Mitochondrial Dna ◽  
Inflammatory Diseases ◽  
Turkish Population ◽  
Cervix Cancer ◽  
Control Group ◽  
Mtdna Mutations ◽  
Long Time ◽  
And Control ◽  
The Relationship ◽  
Chronic Cervicitis

Mitochondrial DNA 4977 bp Deletion in Chronic Cervicitis and Cervix CancersMitochondrial DNA (mtDNA) mutations have been implied in many diseases including cancer and inflammatory diseases. The aim of this study is to investigate the relationship between the 4977 bp deletion of the mtDNA and chronic cervicitis or cervix cancer in patients. The study included a group of patients with chronic cervicitis or cervix cancer, and a control group consisting of individuals without any cervical tissue disease. A total of 72 subjects in an East Turkish population were included in the study. Of these, 35 had chronic cervicitis, 21 had cervix cancer and 16 served as the control group. Isolation of mtDNA was performed from the tissues of these patients and then mtDNA deletions were studied using polymerase chain reaction (PCR). In the cancer groups, there were 9.5% heteroplasmic and homoplasmic deletions. There were no homoplasmic deletions in the cervicitis and control groups, but the frequencies of heteroplasmic deletions were 80.0 and 31.2%, respectively. Chronic inflammation leading to increased reactive oxygen species (ROS) may be the cause of the high mtDNA 4977 bp deletion frequencies in cancer and cervicitis. The older age of the cancer patient may suggest that ageing in addition to long time exposure to ROS may lead to deletions and subsequently cancer. This is the first study to investigate the relationship of the mtDNA 4977 bp deletion to chronic cervicitis and cervix cancer.

scholarly journals A Simple Oligonucleotide Biochip Capable of Rapidly Detecting Known Mitochondrial DNA Mutations in Chinese Patients with Leber’S Hereditary Optic Neuropathy (LHON)

2011 ◽  
Vol 30 (4) ◽  
pp. 181-190 ◽  
Author(s):  
Wei-Dong Du ◽  
Gang Chen ◽  
Hui-Min Cao ◽  
Qing-Hui Jin ◽  
Rong-Feng Liao ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Optic Neuropathy ◽  
Transmitted Disease ◽  
Chinese Patients ◽  
Base Substitution ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Leber's Hereditary Optic Neuropathy ◽  
Mtdna Mutations ◽  
Hereditary Optic Neuropathy ◽  
Oligonucleotide Biochip

Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disease. Clinically, no efficient assay protocols have been available. In this study, we aimed to develop an oligonucleotide biochip specialized for detection of known base substitution mutations in mitochondrial DNA causing LHON and to investigate frequencies of LHON relevant variants in Anhui region of China. Thirty-two pairs of oligonucleotide probes matched with the mutations potentially linked to LHON were covalently immobilized. Cy5-lablled targets were amplified from blood DNA samples by a multiplex PCR method. Two kinds of primary mutations 11778 G > A and 14484 T > C from six confirmed LHON patients were interrogated to validate this biochip format. Further, fourteen Chinese LHON pedigrees and twenty-five unrelated healthy individuals were investigated by the LHON biochip, direct sequencing and pyrosequencing, respectively. The biochip was found to be able efficiently to discriminate homoplasmic and heteroplasmic mtDNA mutations in LHON. Biochip analysis revealed that twelve of eighteen LHON symptomatic cases from the 14 Chinese pedigree harbored the mutations either 11778G > A, 14484T > C or 3460G > A, respectively, accounting for 66.7%. The mutation 11778G > A in these patients was homoplasmic and prevalent (55.5%, 10 of 18 cases). The mutations 3460G > A and 3394T > C were found to co-exist in one LHON case. The mutation 13708G > A appeared in one LHON pedigree. Smaller amount of sampling and reaction volume, easier target preparation, fast and high-throughput were the main advantages of the biochip over direct DNA sequencing and pyrosequencing. Our findings suggested that primary mutations of 11778G > A, 14484T > C or 3460G > A are main variants of mtDNA gene leading to LHON in China. The biochip would easily be implemented in clinical diagnosis.

Mitochondrial DNA (mtDNA) and schizophrenia

2011 ◽  
Vol 26 (1) ◽  
pp. 45-56 ◽  
Author(s):  
B. Verge ◽  
Y. Alonso ◽  
J. Valero ◽  
C. Miralles ◽  
E. Vilella ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Energy Production ◽  
Mitochondrial Disorder ◽  
Nuclear Genome ◽  
Mitochondrial Respiratory Chain ◽  
Mtdna Mutation ◽  
Genetic Studies ◽  
Genetic Characteristics ◽  
Genetic Mechanisms ◽  
Brain Energy

AbstractThe poorly understood aetiology of schizophrenia is known to involve a major genetic contribution even though the genetic factors remain elusive. Most genetic studies are based on Mendelian rules and focus on the nuclear genome, but current studies indicate that other genetic mechanisms are probably involved. This review focuses on mitochondrial DNA (mtDNA), a maternally inherited, 16.6-Kb molecule crucial for energy production that is implicated in numerous human traits and disorders. The aim of this review is to summarise the studies that have explored mtDNA in schizophrenia patients and those which provide evidence for its implication in this illness. Alterations in mitochondrial morphometry, brain energy metabolism, and enzymatic activity in the mitochondrial respiratory chain suggest a mitochondrial dysfunction in schizophrenia that could be related to the genetic characteristics of mtDNA. Moreover, evidence of maternal inheritance and the presence of schizophrenia symptoms in patients suffering from a mitochondrial disorder related to an mtDNA mutation suggest that mtDNA is involved in schizophrenia. The association of specific variants has been reported at the molecular level; however, additional studies are needed to determine whether the mitochondrial genome is involved in schizophrenia.

Mitochondrial DNA Mutation, Diseases, and Nutrient-Regulated Mitophagy

2019 ◽  
Vol 39 (1) ◽  
pp. 201-226 ◽  
Author(s):  
Xuan Yang ◽  
Ruoyu Zhang ◽  
Kiichi Nakahira ◽  
Zhenglong Gu
Keyword(s):  
Mitochondrial Dna ◽  
Molecular Mechanisms ◽  
Genetic Manipulation ◽  
Wide Spectrum ◽  
Human Diseases ◽  
Nutrient Deficiencies ◽  
Mtdna Mutation ◽  
Mitochondrial Dna Mutation ◽  
Mtdna Mutations ◽  
Mitochondrial Homeostasis

A wide spectrum of human diseases, including cancer, neurodegenerative diseases, and metabolic disorders, have been shown to be associated with mitochondrial dysfunction through multiple molecular mechanisms. Mitochondria are particularly susceptible to nutrient deficiencies, and nutritional intervention is an essential way to maintain mitochondrial homeostasis. Recent advances in genetic manipulation and next-generation sequencing reveal the crucial roles of mitochondrial DNA (mtDNA) in various pathophysiological conditions. Mitophagy, a term coined to describe autophagy that targets dysfunctional mitochondria, has emerged as an important cellular process to maintain mitochondrial homeostasis and has been shown to be regulated by various nutrients and nutritional stresses. Given the high prevalence of mtDNA mutations in humans and their impact on mitochondrial function, it is important to investigate the mechanisms that regulate mtDNA mutation. Here, we discuss mitochondrial genetics and mtDNA mutations and their implications for human diseases. We also examine the role of mitophagy as a therapeutic target, highlighting how nutrients may eliminate mtDNA mutations through mitophagy.

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