TY - JOUR
T1 - The Missing "lnc" between Genetics and Cardiac Disease
AU - Azodi, Maral
AU - Kamps, Rick
AU - Heymans, Stephane
AU - Robinson, Emma Louise
N1 - Funding Information:
E.L.R. was supported by a CVON RECONNECT Talent programme research grant (30982461N YTP RECONNECT). We acknowledge working group meeting discussions and support from the EU-CardioRNA COST Action (CA17129). We acknowledge H Llewelyn Roderick (Experimental Cardiology, KU Leuven, Belgium), in whose laboratory the cardiomyocyte image in Figure 1 was generated (by E.L.R. on Nikon A1R confocal microscope).
Funding Information:
Funding: E.L.R. was supported by a CVON RECONNECT Talent programme research grant (30982461N YTP RECONNECT).
Publisher Copyright:
© 2020 by the authors.
PY - 2020/1/14
Y1 - 2020/1/14
N2 - : 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.
AB - : 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.
KW - LONG NONCODING RNAS
KW - MIAT
KW - MYOCARDIAL-INFARCTION
KW - cardiovascular disease (CVD)
KW - long non-coding RNA (lncRNA)
KW - pathogenic gene variants
KW - whole exome sequencing (WES)
KW - whole genome sequencing (WGS)
U2 - 10.3390/ncrna6010003
DO - 10.3390/ncrna6010003
M3 - Editorial
C2 - 31947625
SN - 2311-553X
VL - 6
JO - Non-coding RNA
JF - Non-coding RNA
IS - 1
M1 - 3
ER -