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April 15, 2004Journal of Clinical InvestigationOpen Access

Nkx2-5 haploinsufficiency in mice causes anatomic hypoplasia of the cardiac conduction system, resulting in functional defects including diminished His bundle signal and prolonged PR and QRS intervals.

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Why the study?

Does Nkx2-5 loss of function cause anatomic hypoplasia and electrophysiologic defects in the cardiac conduction system?

Population

Preclinical model: Nkx2-5 knockout and haploinsufficient mice, along with wild-type controls, evaluated at…

Comparison

Nkx2-5 gene mutation/loss of function vs Wild-type (WT) mice

Design

Preclinical, Blinded outcome assessment

Follow-up

Up to 1 year (some observations up to 2 years)

Key result

Nkx2-5 haploinsufficiency in mice causes anatomic hypoplasia of the cardiac conduction system, resulting in functional defects including diminished His bundle signal and prolonged PR and QRS intervals.

Authors

PJPatrick Y. JayBHBrett S. HarrisCMColin T. Maguire

Discussion

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Member takes

Overview

Supports structural mechanism in Nkx2-5 mouse models; leaves open translation to human conduction disease and practice.

Structured PICO

Does Nkx2-5 loss of function cause anatomic hypoplasia and electrophysiologic defects in the cardiac conduction system?

P
Population
Mice with heterozygous and homozygous Nkx2-5 knockout mutations evaluated from embryonic stages up to 1 year of age to assess cardiac conduction system development and electrophysiology.
E
Exposure
Nkx2-5 gene mutation/loss of function (heterozygous and homozygous knockout)
C
Comparator
Wild-type (WT) mice
O
Outcome
Anatomic development of the cardiac conduction system (cell numbers, AV node primordium) and electrophysiologic parameters (PR, QRS, AH, HV intervals, His signal amplitude)surrogate

Nkx2-5 haploinsufficiency causes anatomic hypoplasia of the cardiac conduction system, providing a structural mechanism for the atrioventricular conduction defects seen in humans with Nkx2-5 mutations.

Limitations

  • Did not exclude changes in every protein that participates in the action potential

Cite This Study

Jay et al. (2004) studied Cardiac conduction defects. Nkx2-5 mutation vs. Wild-type mice was evaluated on Anatomic and functional development of the cardiac conduction system. Nkx2-5 haploinsufficiency in mice causes anatomic hypoplasia of the cardiac conduction system, resulting in functional defects including diminished His bundle signal and prolonged PR and QRS intervals.

synapsesocial.com/papers/6a2083deff6a0d6103f896d0https://doi.org/10.1172/jci200419846
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Nkx2-5 mutation causes anatomic hypoplasia of the cardiac conduction system2004 · 246 citations
  2. 2Function follows form: Cardiac conduction system defects in <i>Nkx2‐5</i> mutation2004 · 31 citations
  3. 3Nkx2-5 Loss of Function in the His-Purkinje System Hampers Its Maturation and Leads to Mechanical Dysfunction2023 · 8 citations
  4. 4Nkx2-5 Suppresses the Proliferation of Atrial Myocytes and Conduction System2014 · 63 citations
  5. 5Perinatal Loss of Nkx2-5 Results in Rapid Conduction and Contraction Defects2008 · 98 citations