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Editorial
. 2017 Jun;10(3):e001793.
doi: 10.1161/CIRCGENETICS.117.001793.

The Missing LINC for Genetic Cardiovascular Disease?

Megan J Puckelwartz  1
Affiliations
Editorial

The Missing LINC for Genetic Cardiovascular Disease?

Megan J Puckelwartz. Circ Cardiovasc Genet. 2017 Jun.
No abstract available

Keywords: Editorials; atrial fibrillation; cardiovascular diseases; genetics; heart failure; nuclear envelope; nuclear pore.

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Figures

Figure 1
Figure 1
The nuclear envelope is comprised of proteins implicated in inherited cardiovascular disease. The LINC complex acts as a mechanosensor across the nuclear envelope and spans the outer and inner nuclear membranes (ONM, INM) to connect the cytoskeleton in the cytoplasm and the lamina in the nucleus. LINC complexes are principally composed of nesprin, SUN and lamin proteins along with a variety of additional nuclear membrane components, some of which are implicated in cardiac and skeletal muscle disease. The nuclear pore complex (dark blue) is a multiprotein complex composed of nucleoporin proteins (NUP) and new evidence suggests that variants in the NUP genes may also contribute to inherited cardiovascular disease.
See this image and copyright information in PMC

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References

    1. Benjamin EJ, Blaha MJ, Chiuve SE, Cushman M, Das SR, Deo R, et al. Heart Disease and Stroke Statistics-2017 Update: A Report From the American Heart Association. Circulation. 2017;135:e146–e603. - PMC - PubMed
    1. Rabbani B, Tekin M, Mahdieh N. The promise of whole-exome sequencing in medical genetics. J Hum Genet. 2014;59:5–15. - PubMed
    1. Parikh VN, Ashley EA. Next-Generation Sequencing in Cardiovascular Disease: Present Clinical Applications and the Horizon of Precision Medicine. Circulation. 2017;135:406–409. - PMC - PubMed
    1. Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017;19:249–255. - PubMed
    1. Haskell GT, Jensen BC, Samsa LA, Marchuk D, Huang W, Skrzynia C, et al. Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients with Cardiovascular Disease. Circ Cardiovasc Genet. 2017;10:e001443. - PMC - PubMed

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