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. 2015 Jul 3;2015(2):29.
doi: 10.5339/gcsp.2015.29. eCollection 2015.

Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia?

Despina Sanoudou  1 , Fotis Kolokathis  2 , Demetris Arvanitis  3 , Kholoud Al-Shafai  4 , Navaneethakrishnan Krishnamoorthy  4 , Rachel J Buchan  5 , Roddy Walsh  5 , Dimitris Tsiapras  6 , Paul Jr Barton  5 , Stuart A Cook  7 , Dimitrios Kremastinos  2 , Magdi Yacoub  8
Affiliations

Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia?

Despina Sanoudou et al. Glob Cardiol Sci Pract. .
No abstract available

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Figures

Figure 1.
Figure 1.
Sustained monomorphic ventricular tachycardia episode recorded in patient via ECG.
Figure 2.
Figure 2.
Patient ECG revealing atrial fibrillation with frequent ventricular extra systolic beats.
Figure 3.
Figure 3.
Patient echo study revealing severe left ventricular dilatation (left ventricular end diastolic diameter: 70 mm and left ventricular end systolic diameter 59 mm) and severe systolic dysfunction (left ventricular ejection fraction: 25%).
Figure 4.
Figure 4.
Patient AICD record revealing ventricular tachycardia episode that terminated by AICD firing.
Figure 5.
Figure 5.
Schematic of the cardiomyocyte structure components, including PLN, laminin 2 and Ca(v)1.2 (modified from Fatkin et al Phys Rev 2012).
Figure 6.
Figure 6.
Protein structures and positions of mutations. A) The pentameric structure of PLN. B) A partial modelled structure of CACNB2 (residues 88 to 474). C) A model of the fifth module of laminin G-like domain. The 3D structures are represented as coloured cartoons, where the grey spheres indicate the key mutant residues.
Figure 7.
Figure 7.
Sequence alignment for modeling structures. A) The calcium channel beta-2 subunit of human and rabbit share 98% sequence identity from residues 88 to 469. B) The fifth module of laminin G-like module from human and mouse share 88% sequence identity. The block box indicates the key mutational sequences that are conserved among the species.
See this image and copyright information in PMC

References

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