Programming of Essential Hypertension: What Pediatric Cardiologists Need to Know

Morgado, Joana; Sanches, Bruno; Anjos, Rui; Coelho, Constança

doi:10.1007/s00246-015-1204-7

Cited by 16 publications

(6 citation statements)

References 118 publications

(124 reference statements)

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“…33 Epigenetic factors, including methylation, post-translational histone modification, and noncoding microRNAs, have been indicated to be significantly associated with hypertension. 34,35 Gene environment interactions also play an important part in modulating BP. 6 In the future, exploring these mechanisms may allow alteration of the progress and prognosis of LS by interventions for these factors.…”

Section: Discussionmentioning

confidence: 99%

A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia

Fan

Zhao

Zhang

et al. 2019

American Journal of Hypertension

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BACKGROUND Liddle syndrome (LS) is an autosomal dominant disorder caused by single-gene mutations of the epithelial sodium channel (ENaC). It is characterized by early-onset hypertension, spontaneous hypokalemia and low plasma renin and aldosterone concentrations. In this study, we reported an LS pedigree with normokalemia resulting from a novel SCNN1G frameshift mutation. METHODS Peripheral blood samples were collected from the proband and eight family members for DNA extraction. Next-generation sequencing and Sanger sequencing were performed to identify the SCNN1G mutation. Clinical examinations were used to comprehensively evaluate the phenotypes of two patients. RESULTS Genetic analysis identified a novel SCNN1G frameshift mutation, p.Arg586Valfs*598, in the proband with LS. This heterozygous frameshift mutation generated a premature stop codon and deleted the vital PY motif of ENaC. The same mutation was present in his elder brother with LS, and his mother without any LS symptoms. Biochemical examination showed normokalemia in the three mutation carriers. The mutation identified was not found in any other family members, 100 hypertensives, or 100 healthy controls. CONCLUSIONS Our study identified a novel SCNN1G frameshift mutation in a Chinese family with LS, expanding the genetic spectrum of SCNN1G. Genetic testing helped us identify LS with a pathogenic mutation when the genotypes and phenotype were not completely consistent because of the hypokalemia. This case emphasizes that once a proband is diagnosed with LS by genetic testing, family genetic sequencing is necessary for early diagnosis and intervention for other family members, to protect against severe cardiovascular complications.

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Section: Discussionmentioning

confidence: 99%

A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia

Fan

Zhao

Zhang

et al. 2019

American Journal of Hypertension

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“…They may also be reversible. Since they ensure that only specific genes are expressed in specific cell types, epigenetic events are critical for processes such as cell development and cell differentiation (6). HTN can be caused by abnormalities in epigenetic processes, and it has been connected to numerous epigenetic problems as detailed below (17).…”

Section: Epigenetics Of Hypertensionmentioning

confidence: 99%

The Genetic Basis of Hypertension: An Overview

Sultana

Saha

Akter

et al. 2021

Avicenna J Pharm Res

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In light of the widespread recognition of the heritability of hypertension (HTN), numerous studies have been conducted to better understand the pathogenesis of different variants of HTN and their interactions. The complexity of crucial HTN makes it difficult to segregate and identify particular genes that influence blood pressure (BP) fluctuation, making the development of single-gene targeted treatments tough. Therefore, finding HTN susceptibility genes will contribute to the understanding of the biology behind the disease. Apart from its potential impact on antihypertensive drug therapy selection, genomic information may also contribute to identifying persons at risk of developing the condition, resulting in new preventative strategies. It is necessary to conduct more replication studies in other populations to confirm that there is a link between certain genetic variations and the varying response to these frequently used antihypertensive medications. Moreover, antihypertensive medication responsiveness to epigenetics and regulatory networks may be improved by further research. This may aid researchers to find new HTN therapeutic targets. This study aimed to come up with a list of known genetic variants that may play a role in HTN.

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“…Although epigenetic modifications are heritable and can be passed on through several generations, they can also be influenced by nutritional, pharmaceutical, fetal, and environmental factors, and may be reversible. Epigenetic events play critical roles in physiological processes such as cellular differentiation, by ensuring that only certain genes are expressed in specific cell types ( 3 ). Abnormalities in epigenetic events can lead to the development of HTN, and in fact, HTN has been linked to several epigenetic phenomena as discussed below ( 62 ).…”

Section: Epigenetics Of Htnmentioning

confidence: 99%

“…In children and adolescents between 3 and 18 years of age, the prevalence of HTN has been reported to be 3.6% ( 2 ). Morbidity and mortality from HTN continue to be high in adults, with HTN accounting for an estimated 45% of deaths due to cardiac disease and 51% of deaths from strokes ( 3 ). Despite its widespread prevalence, however, the etiology of essential HTN remains largely unknown.…”

Section: Introductionmentioning

confidence: 99%

“…A growing body of evidence supports the observation that HTN results from a complex interplay of genetic, epigenetic, and environmental factors. Genetic factors are thought to contribute to approximately 30–60% of blood pressure (BP) variation ( 3 , 4 ). However, known genetic factors explain only 3% of BP variance ( 5 ), underscoring the fact that many genetic variants have yet to be discovered.…”

Section: Introductionmentioning

confidence: 99%

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Genetic Programming of Hypertension

Ahn

Gupta

2018

Front. Pediatr.

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The heritability of hypertension (HTN) is widely recognized and as a result, extensive studies ranging from genetic linkage analyses to genome-wide association studies are actively ongoing to elucidate the etiology of both monogenic and polygenic forms of HTN. Due to the complex nature of essential HTN, however, single genes affecting blood pressure (BP) variability remain difficult to isolate and identify and have rendered the development of single-gene targeted therapies challenging. The roles of other causative factors in modulating BP, such as gene–environment interactions and epigenetic factors, are increasingly being brought to the forefront. In this review, we discuss the various monogenic HTN syndromes and corresponding pathophysiologic mechanisms, the different methodologies employed in genetic studies of essential HTN, the mechanisms for epigenetic modulation of essential HTN, pharmacogenomics and HTN, and finally, recent advances in genetic studies of essential HTN in the pediatric population.

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Programming of Essential Hypertension: What Pediatric Cardiologists Need to Know

Cited by 16 publications

References 118 publications

A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia

A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia

The Genetic Basis of Hypertension: An Overview

Genetic Programming of Hypertension

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