Single nucleotide polymorphism and left ventricular hypomorphism in Obscurin gene

Abstract

In a recent interesting article, Roland et al. We report a case study
of 4 patients with obscurin mutations, of which 3 had left
ventricular hyperrotation/decompression (LVHT) and 1 patient
had dilated cardiomyopathy [1]. Obscurin interacts with actin,
myomesmin, and obscurin-like-1 to play an important role in the
production of myofibrils and cytoskeletal arrangement, creating a
complex that is important to the function of myofibril M-belt.
The relationship between obscurin variants and LVHT is not
surprising, because the current view is that the contractility of the
heart is related to non-compression. We have the following
opinions and concerns.