Association between the C34T polymorphism of the AMPD1 gene and essential hypertension in Malaysian patients

Nemati, Reza; Lü, Jing; Ramachandran, Vasudevan; Etemad, Ali; Heidari, Mehdi; Yahya, Mohd Jokha; Roozafzoon, Reza; Ismail, Patimah

doi:10.4238/gmr.15026241

Cited by 3 publications

(3 citation statements)

References 35 publications

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“…Indeed, ADA activity and platelet aggregation could serve as peripheral markers for the development of therapy for the maintenance of homeostasis and inflammatory processes in hypertension and hypertension-associated pathologies [ 205 ]. A genetic study with hypertensive patients showed that a common polymorphism (C34 T) of the ADA gene (isoform 1) is strongly correlated with hypertension [ 206 ].…”

Section: The Role Of the Purinergic System In Dmmentioning

confidence: 99%

Diabetes and hypertension: Pivotal involvement of purinergic signaling

Reichert¹,

Castro²,

Assmann³

et al. 2021

Biomedicine & Pharmacotherapy

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Section: The Role Of the Purinergic System In Dmmentioning

confidence: 99%

Diabetes and hypertension: Pivotal involvement of purinergic signaling

Reichert¹,

Castro²,

Assmann³

et al. 2021

Biomedicine & Pharmacotherapy

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“…A family history of hypertension means that individuals are more likely to suffer hypertension [ 3 , 4 ]. Maternally inherited essential hypertension (MIEH) is EH that shows a pattern of maternal inheritance and is occasionally observed in the clinic [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

Mitochondrial DNA 7908–8816 region mutations in maternally inherited essential hypertensive subjects in China

Zhu

2018

BMC Med Genomics

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BackgroundNuclear genes or family-based mitochondrial screening have been the focus of genetic studies into essential hypertension. Studies into the role of mitochondria in sporadic Chinese hypertensives are lacking. The objective of the study was to explore the relationship between mitochondrial DNA (mtDNA) variations and the development of maternally inherited essential hypertension (MIEH) in China.MethodsYangzhou residents who were outpatients or in-patients at the Department of Cardiology in Northern Jiangsu People’s Hospital (Jiangsu, China) from June 2009 to June 2015 were recruited in a 1:1 case control study of 600 gender-matched Chinese MIEH subjects and controls. Genomic DNA was isolated from whole blood cells. The most likely sites for hypertension were screened using oligodeoxynucleotides at positions 7908–8816, purified and subsequently analyzed by direct sequencing according to the revised consensus Cambridge sequence. The frequency, density, type and conservative evolution of mtDNA variations were comprehensively analyzed.ResultsWe found a statistical difference between the two groups for body mass index, waist circumference, abdominal circumference, triglyceride, low-density lipoprotein cholesterol, fasting blood glucose, uric acid, creatinine and blood urea nitrogen (P < 0.05). More amino-acid changes and RNA variants were found in MIEH subjects than the controls (P < 0.01). The detection system simultaneously identified 40 different heteroplasmic or homoplasmic mutations in 4 genes: COXII, tRNALys, ATP8 and ATP 6. The mtDNA variations were mainly distributed in regions of ATP6 binding sites, and the site of highest mutation frequency was m. 8414C > T. Three changes in single bases (C8414T in ATP8, A8701G in ATP6 and G8584A in ATP6) were significantly different in the MIEH patients and the controls (P < 0.001). The m.8273_8281del mutation was identified from 59 MIEH patients.ConclusionsOur results indicate that novel mtDNA mutations may be involved in the pathological process of MIEH, and mitochondrial genetic characteristics were identified in MIEH individuals.Electronic supplementary materialThe online version of this article (10.1186/s12920-018-0408-0) contains supplementary material, which is available to authorized users.

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“…Human studies have shown increase in ADA activity and expression in response to hypertension and hypertension-associated pathologies, such as metabolic syndrome [ 108 ]. A genetic study with hypertensive patients showed that a common polymorphism (C34T) of the ADA gene (isoform 1) is strongly correlated with essential hypertension [ 109 ]. ADA activity is also increased in both platelets and lymphocytes in an animal model of hypertension induced by L-NAME administration [ 81 , 104 – 106 ].…”

Section: Noncommunicable Neurological and Degenerative Diseasesmentioning

confidence: 99%

The Impact of Purinergic System Enzymes on Noncommunicable, Neurological, and Degenerative Diseases

Bagatini

Santos

Cardoso

et al. 2018

Journal of Immunology Research

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Evidences show that purinergic signaling is involved in processes associated with health and disease, including noncommunicable, neurological, and degenerative diseases. These diseases strike from children to elderly and are generally characterized by progressive deterioration of cells, eventually leading to tissue or organ degeneration. These pathological conditions can be associated with disturbance in the signaling mediated by nucleotides and nucleosides of adenine, in expression or activity of extracellular ectonucleotidases and in activation of P2X and P2Y receptors. Among the best known of these diseases are atherosclerosis, hypertension, cancer, epilepsy, Alzheimer's disease (AD), Parkinson's disease (PD), and multiple sclerosis (MS). The currently available treatments present limited effectiveness and are mostly palliative. This review aims to present the role of purinergic signaling highlighting the ectonucleotidases E-NTPDase, E-NPP, E-5′-nucleotidase, and adenosine deaminase in noncommunicable, neurological, and degenerative diseases associated with the cardiovascular and central nervous systems and cancer. In conclusion, changes in the activity of ectonucleotidases were verified in all reviewed diseases. Although the role of ectonucleotidases still remains to be further investigated, evidences reviewed here can contribute to a better understanding of the molecular mechanisms of highly complex diseases, which majorly impact on patients' quality of life.

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Association between the C34T polymorphism of the AMPD1 gene and essential hypertension in Malaysian patients

Cited by 3 publications

References 35 publications

Diabetes and hypertension: Pivotal involvement of purinergic signaling

Diabetes and hypertension: Pivotal involvement of purinergic signaling

Mitochondrial DNA 7908–8816 region mutations in maternally inherited essential hypertensive subjects in China

The Impact of Purinergic System Enzymes on Noncommunicable, Neurological, and Degenerative Diseases

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