Although the mechanism of sudden cardiac death (SCD) in heart failure is not completely known, genetic variations are known to play key roles in this process. Increasing numbers of mutations and variants are being discovered through genome-wide association studies. The genetic variations involved in the mechanisms of SCD have aroused widespread concern. Comprehensive understanding of the genetic variations involved in SCD may help prevent it. To this end, we briefly reviewed the genetic variations involved in SCD and their associations and interactions, and observed that cardiac ion channels are the core molecules involved in this process. Genetic variations involved in cardiac structure, cardiogenesis and development, cell division and differentiation, and DNA replication and transcription are all speculated to be loci involved in SCD. Additionally, the systems involved in neurohumoral regulation as well as substance and energy metabolism are also potentially responsible for susceptibility to SCD. They form an elaborate network and mutually interact with each other to govern the fate of SCD-susceptible individuals.
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http://dx.doi.org/10.1007/s10741-016-9563-6 | DOI Listing |
Hum Genomics
January 2025
Division of Genome Science, Department of Precision Medicine, Korea National Institute of Health, Korea Disease Control and Prevention Agency, Cheongju, Chungbuk, 28159, Republic of Korea.
Background: Congenital anomalies (CAs) encompass a wide spectrum of structural and functional abnormalities during fetal development, commonly presenting at birth. Identifying the cause of CA is essential for accurate diagnosis and treatment. Using a target-gene approach, genetic variants could be found in certain CA patients.
View Article and Find Full Text PDFJ Ovarian Res
January 2025
Departments of Endocrinology, Sheri Kashmir Institute of Medical Sciences, Srinagar, J&K, India.
Background: A significant overlap in the pathophysiological features of polycystic ovary syndrome (PCOS) and type 2 diabetes mellitus (T2DM) has been reported; and insulin resistance is considered a central driver in both. The expression and hepatic clearance of insulin and subsequent glucose homeostasis are mediated by TCF7L2 via Wnt signaling. Studies have persistently associated TCF7L2 genetic variations with T2DM, however, its results on PCOS are sparse and inconsistent.
View Article and Find Full Text PDFParasit Vectors
January 2025
Center of Excellence in Veterinary Parasitology, Department of Pathology, Faculty of Veterinary Science, Chulalongkorn University, Bangkok, 10330, Thailand.
Background: The subfamily Phlebotominae comprises 1028 species of sand fly, of which only 90 are recognized as vectors of pathogenic agents such as Trypanosoma, Leishmania, and Bartonella. In Thailand, leishmaniasis-a sand fly-borne disease-is currently endemic, with 36 documented sand fly species. However, many cryptic species likely remain unidentified.
View Article and Find Full Text PDFBMC Genomics
January 2025
Key Laboratory of Genetic Evolution & Animal Models and Yunnan Key Laboratory of Molecular Biology of Domestic Animals, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, 650223, China.
Background: Since their domestication, recent inbreeding together with intensive artificial selection and population bottlenecks have allowed the prevalence of deleterious mutations and the increase of runs-of-homozygosity (ROH) in domestic pigs. This makes pigs a good model to understand the genetic underpinnings of inbreeding depression.
Results: Here we integrated a comprehensive dataset comprising 7239 domesticated pigs and wild boars genotyped by single nucleotide polymorphism (SNP) chips, along with phenotypic data encompassing growth, reproduction and disease-associated traits.
Neurogenetics
January 2025
Department of Otolaryngology & Head and Neck, Liuzhou Worker's Hospital of Guangxi Zhuang Autonomous Region, 156 Heping Road, Liuzhou, 545007, China.
Background: Mutations in the LARS2 gene are correlated with Perrault syndrome, a rare autosomal recessive genetic disorder, that is typically characterized by sensorineural hearing loss and ovarian insufficiency.
Methods: Whole-exome sequencing and mutational analysis were employed to identify hearing loss-causing genes in a Chinese family from the Guangxi Zhuang Autonomous Region. Clinical phenotypes, audiological data, and color Doppler ultrasound of the family were collected, and a series of computer software were used to analyze the impact of genetic variations on protein structure and function.
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