Abstract
Cardiovascular disease (CVD) is one of the biggest threats to public health worldwide. Identifying key genetic contributors to CVD enables clinicians to assess the most effective treatment course and prognosis, as well as potentially inform family members. This often involves either whole exome sequencing (WES) or targeted panel analysis of known pathogenic genes. In the future, tailored or personalized therapeutic strategies may be implemented, such as gene therapy. With the recent revolution in deep sequencing technologies, we know that up to 90% of the human genome is transcribed, despite only 2% of the 6 billion DNA bases coding for proteins. The long non-coding RNA (lncRNA) “genes” make up an important and significant fraction of this “dark matter” of the genome. We highlight how, despite lncRNA genes exceeding that of classical protein-coding genes by number, the “non-coding” human genome is neglected when looking for genetic components of disease. WES platforms and pathogenic gene panels still do not cover even characterized lncRNA genes that are functionally involved in the pathophysiology of CVD. We suggest that the importance of lncRNAs in disease causation and progression be taken as seriously as that of pathogenic protein variants and mutations, and that this is maybe a new area of attention for clinical geneticists.
Highlights
DNA material can be enriched to analyze a limited number of target genetic regions, such as autosomal dominant cardio disease gene-panels or whole exome sequencing (WES) of all coding exons of the human genome
The use of whole genome sequencing (WGS) routinely in clinical genetics is limited by its financial cost and complexity of data interpretation, especially in expanding our understanding of the function of the non-coding part of the genome
With long non-coding RNA (lncRNA) emerging as having important and diverse functions as proteins, variants and mutations in ncRNAs could reveal the genetic component of Cardiovascular disease (CVD) that we currently do not understand or describe as idiopathic
Summary
Many have been remodeling or microRNA interaction, cofactors to regulate key proteins in cells of the cardiovascular identified to regulate gene expression through epigenetic mechanisms, splicing modulation, system as well as potential biomarkers in the circulation for CVD diagnosis and prognosis [10]. Chromatin remodeling or microRNA interaction, cofactors to regulate key proteins in cells of the Myosin heavy-chain-associated RNA transcripts (Myheart or MHRT) is a lncRNA cluster, which cardiovascular system as well as potential biomarkers in the circulation for CVD diagnosis and is overlapping and antisense to the myosin heavy chain 7 (Myh7) gene locus.
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