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The impact of common and rare genetic variants on bradyarrhythmia development.
Nat Genet
January 2025
Telemachus and Irene Demoulas Family Foundation Center for Cardiac Arrhythmias, Massachusetts General Hospital, Boston, MA, USA.
To broaden our understanding of bradyarrhythmias and conduction disease, we performed common variant genome-wide association analyses in up to 1.3 million individuals and rare variant burden testing in 460,000 individuals for sinus node dysfunction (SND), distal conduction disease (DCD) and pacemaker (PM) implantation. We identified 13, 31 and 21 common variant loci for SND, DCD and PM, respectively.
View Article and Find Full Text PDFA Multidisciplinary Approach to Navigating Variants of Uncertain Significance in Sudden Infant Deaths: A Case Report of 2 Siblings With an SCN10A VUS.
Am J Forensic Med Pathol
January 2025
Office of the Medical Examiner-Davidson and Williamson Counties, Nashville, TN /Forensic Medical Management Services, LLC.
The sudden death of a previously healthy infant is a devastating event for a family-the death of 2 even more unimaginable. Prior to the debunking of Meadow's law, a legal concept attributing multiple unexplained infant deaths to Munchausen by proxy, these events could lead to the wrongful prosecution of those who had lost their children to "sudden unexpected infant death (SUID)." Today, these cases, wherein multiple infants within one family pass inexplicably, raise suspicion for a possible genetic cause and point toward a need for postmortem genetic testing.
View Article and Find Full Text PDFThe Evolving Landscape of Small Fiber Neuropathy.
Semin Neurol
October 2024
Clinical Neurophysiology Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta," Milan, Italy.
Small fiber neuropathy (SFN) belongs to a heterogeneous group of disorders in which thinly myelinated Aδ and unmyelinated C-fibers are primarily affected, leading to neuropathic pain and autonomic symptoms. SFN can be associated with systemic conditions such as diabetes, autoimmune diseases, exposure to drugs and toxins, and infection, with the list of associated diseases continuing to expand. Variants in the SCN9A, SCN10A, and SCN11A genes encoding Nav 1.
View Article and Find Full Text PDFA Rare Noncoding Enhancer Variant in Contributes to the High Prevalence of Brugada Syndrome in Thailand.
Circulation
January 2025
Department of Medicine, Center of Excellence in Arrhythmia Research (J.M., W.W., B.S., P.W., N.C., R.C., S.P., K.N., A.K.), Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Article Synopsis
- Brugada syndrome (BrS) is a hereditary cardiac disorder linked to sudden death in young adults, particularly prevalent in Southeast Asia, with certain genetic variants associated with the condition.
- Researchers conducted genome sequencing on individuals with BrS and matched controls in Thailand to find rare noncoding variants that are more common in BrS patients.
- A specific rare variant was identified that disrupts a transcription factor binding site, causing reduced gene expression and reduced sodium current in heart cells, contributing to the high prevalence of BrS in the region and identifying at-risk individuals.
NaV1.8/NaV1.9 double deletion mildly affects acute pain responses in mice.
Pain
October 2024
Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Article Synopsis
- NaV1.8 and NaV1.9 are sodium channels crucial for pain signaling in sensory neurons, affecting how pain stimuli are processed and transmitted.
- Mutations in the genes encoding these channels (SCN10A and SCN11A) can lead to various pain-related disorders, including small fiber neuropathy and congenital insensitivity to pain.
- Researchers created double knockout mice to study the effects of losing both sodium channels, finding moderate pain behavior impairment and valuable insights for exploring human pain-related genetic variants.
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