Genetics and Arrhythmias: Beyond Mendel's Peas-Mosaics: How, How Common and How Important? (Presenter: Martin Tristani-Firouzi, MD)

Mosaics: How, How Common and How Important? (Presenter: Martin Tristani-Firouzi, MD)

Video Transcription

Video Summary

Dr. Marty Tristani from the University of Utah gave a presentation on the topic of mosaicism. Mosaicism refers to the presence of multiple populations of cells with different DNA sequences within an individual. Dr. Tristani explained that there are two main types of mosaicism: germline mosaicism and somatic mosaicism. Germline mosaicism occurs when a mutation is present in some cells of the body and can be passed on to offspring. Somatic mosaicism occurs when a mutation arises after fertilization and affects only specific cells or tissues. Detecting mosaic mutations can be challenging but is typically done through sequencing methodologies. Dr. Tristani provided examples of mosaic mutations in various diseases, such as autism and long QT syndrome, and highlighted the importance of considering mosaicism in genetic counseling and disease management. He also discussed the possibility of mosaicism in RYR2 mutations associated with catecholaminergic polymorphic ventricular tachycardia (CPVT) and the need for further research in this area.

Meta Tag

Lecture ID 6685

Location Room 203

Presenter Martin Tristani-Firouzi, MD

Role Invited Speaker

Session Date and Time May 09, 2019 10:30 AM - 12:00 PM

Session Number S-013

Keywords

mosaicism

germline mosaicism

somatic mosaicism

mutation

sequencing methodologies