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A novel tool to study life-threatening arrhythmias: A genetically engineered pig

Researchers at NYU Langone Medical Center developed a genetically engineered pig model to study inherited arrhythmic syndrome, shedding light on the mechanisms of lethal arrhythmias. The model may lead to the development of better treatments for life-threatening arrhythmias and sudden cardiac death.

SourceNYU Langone Health / NYU Grossman School of Medicine·JournalJournal of Clinical Investigation·DateDec 15, 2014

Getting to the heart of the heart

Researchers at Johns Hopkins University have captured images of the complex, revealing the connection between some genetic mutations and electrical abnormalities in the heart. The study provides a starting point for designing therapies to treat conditions such as long QT syndrome and Brugada syndrome.

SourceJohns Hopkins Medicine·JournalNature Communications·DateNov 5, 2014

One molecule to block both pain and itch

Researchers at Duke University discovered an antibody that simultaneously blocks the sensations of pain and itching by targeting Nav1.7 sodium channels. The study showed promising results in mouse models, suggesting a new treatment option for pain and itch conditions.

SourceDuke University·JournalCell·DateMay 22, 2014

Fast and reliable: New mechanism for speedy transmission in basket cells discovered

Basket cells convert excitatory signals into inhibitory outputs within milliseconds; researchers identify controlled increase in Na+ channels and conductance for fast transmission. Signal processing is made possible by high density of Na+ channels and increased conductance, compensating for small axon diameter and lack of myelination.

SourceInstitute of Science and Technology Austria·JournalNature Neuroscience·DateMar 23, 2014

UBC researchers illuminate link between sodium, calcium and heartbeat using Canadian Light Source

Researchers used the Canadian Light Source to study the sodium channel in heart cells, revealing a key role for calmodulin and calcium ions in regulating heartbeat. The findings shed light on two potentially life-threatening cardiac arrhythmia conditions, Brugada Syndrome and Long Q-T type 3.

SourceCanadian Light Source, Inc.·JournalProceedings of the National Academy of Sciences·DateFeb 13, 2012

UC Davis researcher develops model to foster new drug development to treat pain and epilepsy

A UC Davis School of Medicine researcher has developed an algorithm that predicts the conformation changes in voltage-gated sodium channels, crucial for designing new drugs to treat chronic pain and epilepsy. This innovation could lead to highly specific and effective therapies with minimal side effects.

SourceUniversity of California - Davis Health·JournalProceedings of the National Academy of Sciences·DateDec 12, 2011

JCI table of contents: Sept. 27, 2010

Researchers discovered that Maf protein promotes osteoblast differentiation in mice, reducing bone formation and increasing fat cell generation with age. Additionally, studies found defective immune cells in patients with type 1 diabetes and suggested these cells could be a viable target for treatment.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateSep 27, 2010

Common mechanism underlies many diseases of excitability

Researchers have discovered a common mechanism underlying many diseases of excitability, characterized by overactivity of cells relying on electrical currents. The mutations alter the opening of sodium channels, leading to rapid resurgent currents that trigger second electrical impulses.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateDec 28, 2009

JCI table of contents: Dec. 28, 2009

Researchers have identified Notch signaling pathway activation in human angiomyolipomas and TSC2-deficient rat cells, suggesting that TSC proteins regulate Notch activity. This finding supports the idea that Notch dysregulation may underlie some of the distinctive clinical features of Tuberous Sclerosis Complex.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateDec 28, 2009

Uncooperative voltage sensors

A new JGP study advances conclusions about the essential features of the Shaker K+ channel. Researchers propose that if three of four voltage sensors are in an activated conformation, the fourth can open and close the channel by itself.

SourceRockefeller University Press·JournalJournal of General Physiology·DateApr 27, 2009

Evolution and epilepsy

Researchers discovered that evolutionary changes produced improvements in molecules generating electrical signals in nerves between 550 and 400 million years ago. These innovations contributed to the evolutionary success and diversity of vertebrate animals. The study also found that the same electrical signaling molecules are an effect...

Origin of inherited pain disorder pinpointed

Researchers pinpointed paroxysmal extreme pain disorder (PEPD) to specific porelike sodium channels in peripheral nerve cells, highlighting the role of such channel disorders in inflammatory pain. Mutations in SCN9A gene were found to be responsible for at least two-thirds of PEPD cases.

SourceCell Press·JournalNeuron·DateDec 6, 2006

JCI table of contents: November 22, 2006

A study published in JCI found that overexpression of CaMKII altered sodium channel function, leading to increased susceptibility to ventricular tachyarrhythmias in mice. Additionally, proteasome composition differed between Crohn disease and ulcerative colitis, with CD showing increased degradation of an NF-kappa-B inhibitor.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateNov 22, 2006

Convergent evolution of molecules in electric fish

Scientists found that African and South American fish independently developed electric organs by altering sodium channel proteins, allowing them to generate and sense electric fields. This convergent evolution of molecules provides valuable insights into the role of genes in human health and disease.

SourceUniversity of Texas at Austin·JournalProceedings of the National Academy of Sciences·DateMar 3, 2006

Understanding and diagnosing an inherited pain syndrome

A study published by Yale researchers found that 17 members of a family carried a specific mutation in the sodium channel Nav1.7 gene, which is associated with intense burning pain in the hands and feet triggered by heat and exercise. The discovery suggests the possibility of rational therapies targeting this affected channel.

SourceYale University·JournalBrain·DateJul 13, 2005