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.

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.

Energy Metabolism Impairment in Migraine

2019 ◽  
Vol 26 (34) ◽  
pp. 6253-6260 ◽  
Author(s):  
Sabina Cevoli ◽  
Valentina Favoni ◽  
Pietro Cortelli
Keyword(s):  
Energy Metabolism ◽  
Energy Demand ◽  
Energy Production ◽  
Mitochondrial Respiratory Chain ◽  
Migraine Prophylaxis ◽  
Resonance Spectroscopy ◽  
Oxidative Energy Metabolism ◽  
Spectroscopy Studies ◽  
The Brain ◽  
Brain Energy

Migraine is a common disabling neurological disorder which is characterised by a recurring headache associated with a variety of sensory and autonomic symptoms. The pathophysiology of migraine remains not entirely understood, although many mechanisms involving the central and peripheral nervous system are now becoming clear. In particular, it is widely accepted that migraine is associated with energy metabolic impairment of the brain. The purpose of this review is to present an updated overview of the energy metabolism involvement in the migraine pathophysiology. Several biochemical, morphological and magnetic resonance spectroscopy studies have confirmed the presence of energy production deficiency together with an increment of energy consumption in migraine patients. An increment of energy demand over a certain threshold creates metabolic and biochemical preconditions for the onset of the migraine attack. The defect of oxidative energy metabolism in migraine is generalized. It remains to be determined if the mitochondrial deficit in migraine is primary or secondary. Riboflavin and Co-Enzyme Q10, both physiologically implicated in mitochondrial respiratory chain functioning, are effective in migraine prophylaxis, supporting the hypothesis that improving brain energy metabolism may reduce the susceptibility to migraine.

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.

Mitochondrial DNA-related Disorders

2007 ◽  
Vol 27 (1-3) ◽  
pp. 31-37 ◽  
Author(s):  
Michelangelo Mancuso ◽  
Massimiliano Filosto ◽  
Anna Choub ◽  
Marta Tentorio ◽  
Laura Broglio ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Genome ◽  
Respiratory Chain ◽  
Nuclear Genome ◽  
Mitochondrial Diseases ◽  
Mitochondrial Respiratory Chain ◽  
Mitochondrial Genetics ◽  
Respiratory Chain Deficiency ◽  
Clinical Syndromes ◽  
Clinical Pictures

Mitochondrial diseases are a group of disorders due to a mitochondrial respiratory chain deficiency. They may depend on mitochondrial genome (mtDNA-related disorders) as well as on a nuclear genome defect (nDNA-related disorders). mtDNA-related disorders encompass an increasing number of clinical pictures associated with more than 250 different provisional or confirmed pathogenic changes in mtDNA. Although some clinical syndromes are nosologically defined, most of the cases present with polymorphous phenotypes ranging from pure myopathy to multi-system involvement. Complexity of mitochondrial genetics is in part responsible for the extreme clinical intra- and inter-familial heterogeneity of this group of diseases. In this review, we briefly report an updated classification and overview the main clinical pictures of this class of diseases.

The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct

Neurology ◽  
1997 ◽  
Vol 49 (5) ◽  
pp. 1331-1334 ◽  
Author(s):  
K. Majamaa ◽  
J. Turkka ◽  
M. Kärppä ◽  
S. Winqvist ◽  
I. E. Hassinen
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Disorder ◽  
Young Patients ◽  
Posterior Part ◽  
Population Based ◽  
Mtdna Mutation ◽  
Specific Population ◽  
A3243g Mutation ◽  
The Common ◽  
Rna Genes

The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) may present with symptoms that resemble a stroke. The strokelike episodes most commonly involve the posterior part of the cerebrum. We identified retrospectively 38 patients with an occipital stroke between ages 18 to 45 years during a 19-year period in a hospital serving as the only neurologic center for a specific population. The common MELAS mutation at the base pair 3243 (A3243G) of the mitochondrial DNA (mtDNA) was analyzed in blood samples. We found four patients (10%) with a clinical or molecular diagnosis of a mitochondrial disorder. Two of the patients carried the A3243G mutation, suggesting frequencies of 6% among patients younger than 45 years of age and 14% among patients younger than 30 years for this mutation. Furthermore, we identified two patients with a clinically definite mitochondrial disorder, and sequencing of the 22 transfer RNA genes revealed the mtDNA mutation A12308G in one patient. Clinical evaluation revealed that occipital stroke was part of a more complex syndrome in these four patients. These population-based findings demonstrate that the A3243G mutation in the mtDNA, and mitochondrial disorders are not uncommon among young patients with occipital stroke.

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.

scholarly journals A battle for transmission: the cooperative and selfish animal mitochondrial genomes

Open Biology ◽  
2019 ◽  
Vol 9 (3) ◽  
pp. 180267 ◽  
Author(s):  
Anna Klucnika ◽  
Hansong Ma
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Genome ◽  
Energy Production ◽  
Nuclear Genome ◽  
The Other ◽  
Mitochondrial Genomes ◽  
Cellular Processes ◽  
Mitochondrial Replacement Therapy ◽  
Mtdna Evolution ◽  
Organismal Fitness

The mitochondrial genome is an evolutionarily persistent and cooperative component of metazoan cells that contributes to energy production and many other cellular processes. Despite sharing the same host as the nuclear genome, the multi-copy mitochondrial DNA (mtDNA) follows very different rules of replication and transmission, which translate into differences in the patterns of selection. On one hand, mtDNA is dependent on the host for its transmission, so selections would favour genomes that boost organismal fitness. On the other hand, genetic heterogeneity within an individual allows different mitochondrial genomes to compete for transmission. This intra-organismal competition could select for the best replicator, which does not necessarily give the fittest organisms, resulting in mito-nuclear conflict. In this review, we discuss the recent advances in our understanding of the mechanisms and opposing forces governing mtDNA transmission and selection in bilaterians, and what the implications of these are for mtDNA evolution and mitochondrial replacement therapy.

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