New live cell models lay the groundwork for studies into mitochondrial diseases
The mitochondrion has garnered quite the reputation for its role as the powerhouse of the cell. These tiny, but mighty organelles play various life-sustaining roles, from powering our own cells and organs to fueling chemical and biological processes. But when they aren t working properly, a number of rare diseases can occur.
Mitochondrial diseases are a group of debilitating genetic disorders that affect one in 5,000 people throughout the world, most of them being children. Along with these diseases come a variety of health concerns including, but not limited to, heart disease, developmental and cognitive disabilities, respiratory issues, poor growth, and even premature death. As of this moment, there is no cure.
An artistic rendering of a mitochondrion inside of a human cell. Photo courtesy of Adobe Stock.
The mitochondrion has garnered quite the reputation for its role as the “powerhouse of the cell.” These tiny, but mighty organelles play various life-sustaining roles, from powering our own cells and organs to fueling chemical and biological processes. But when they aren’t working properly, a number of rare diseases can occur.
Mitochondrial diseases are a group of debilitating genetic disorders that affect one in 5,000 people throughout the world, most of them being children. Along with these diseases come a variety of health concerns including, but not limited to, heart disease, developmental and cognitive disabilities, respiratory issues, poor growth, and even premature death. As of this moment, there is no cure.
But as with other organisms, a great deal of the genetic sequence set forth early in the 21st Century was incomplete due to technical limitations. Chief amongst these was difficulty in obtaining reliable sequence information on sequences repeated in many places in the genome, which interfered with reliable assembly of sequenced portions (termed contigs ) into longer (ideally, chromosomal-length) linear sequence assemblies (termed scaffolds). Improvements in sequencing technology now permit better sequence determinations for high GC and highly repetitive regions.
The existence of a prior reference genome (produced from a female boxer named Tasha), combined with these new sequencing tools, was used by an international team of researchers in a paper published in March of this year in the
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Researcher creates cell lines to help treat mitochondrial diseases in children eurekalert.org - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from eurekalert.org Daily Mail and Mail on Sunday newspapers.