Posted June 1, 2017 Atlanta, GA
Genetic mitochondrial disease is present in about 1 out of every 5,000 babies, who face insurmountable odds from the moment they are born. Thats because at present, there is no cure for these conditions. But a new assisted reproductive technology that prevents the transmission of mitochondrial disease from mother to child holds great promise.
Mitochondrial replacement (MR) therapy combines the nuclear DNA from the mother with healthy mitochondria from a donor egg to create a healthy new egg that can be fertilized with the fathers sperm, thereby yielding a three-person baby. Last year, the worlds first three-person baby resulting from this method was delivered by U.S. doctors in Mexico, where there are no laws prohibiting the procedure.
The healthy newborn got about 0.1 percent of his DNA from the donor, and the vast majority of his genetic code specifying eye color, hair, etc. from his mom and dad.
Mitochondrial DNA comprises just a small percentage of our total DNA, containing just 37 of the 20,000 to 25,000 protein-coding genes in our body. And while nuclear DNA comes from both parents, our mitochondrial DNA comes directly from our mothers, so my mitochondrial genome will be exactly like my mothers, yours will be like your mothers, and so on, says Lavanya Rishishwar, former grad student in the lab of Petit Institute researcher King Jordan and team lead for Applied Bioinformatics Laboratory (ABiL, a public-private partnership between Georgia Tech and IHRC Inc.).
While the method hasnt been green lighted in the U.S. yet, the United Kingdom gave the go-ahead for MR therapy in December. This announcement came in the wake of concerns about the safety of MR therapy that were raised by evolutionary biologists, who argue that nuclear and mitochondrial genomes evolved concurrently, and therefore mitochondria from one person or population may not be compatible with nuclear material from another.
In support of the evolutionary biologists nuclear-mitochondrial mismatch hypothesis, a number of previous studies on model organisms have provided evidence for incompatibility between nuclear and mitochondrial genomes from divergent populations of the same species. But a recent study by Jordan and Rishishwar published in BMC Genomics lays those fears to rest.
The alarm was raised based on work that was done on model systems, says Jordan, associate professor in the School of Biological Sciences and director of the Bioinformatics Graduate Program. They didnt work with humans, they worked with fruit flies, with mice, and those experiments resulted in a host of different problems for the resulting offspring. The key is, those were artificial experiments. Meanwhile, theres been an ongoing natural experiment that has been conducted over millennia in human populations.
So Jordan and Rishishwar tested the nuclear-mitochondrial mismatch hypothesis for humans by observing the source: humanity. They used data from the 1,000 Genomes Project and the Human Genome Diversity Project, studying the incidents of nuclear- mitochondrial DNA mismatch seen in more than 3,500 people from about 60 populations on five continents.
Weve been working for some years on human population genomics and remain interested in admixed American populations, Jordan says. The trajectory of modern human evolution for the past 50,000 to 100,000 years starts with the journey out of Africa, followed by a long period when populations were geographically isolated for the most part. During that time, human populations genetically diverged since they were physically isolated.
But over the past 500 years or so, since Columbus came to the new world from Europe, that process of isolation and divergence got flipped upside down, Jordan notes. Over a very short evolutionary time, you had populations from the Americas, Europe, and shortly thereafter, Africa because of the transatlantic slave trade, that were all brought together.
Hence, in the Americas weve seen the creation of genome sequences that are evolutionarily novel in the history of humanity, in that they contain combinations of variants that had never existed together before. Jordan and his team have been studying this for a while, and understood that healthy individuals can bear combinations of variants that had different ancestral sources within the same genomic background.
We knew that at a very intuitive level because of our own research, says Jordan, who stumbled on a paper in Nature expressing the grave concerns of evolutionary biologists and thought, instead of relying on artificial experiment systems, why dont we just try to read the results of this long, ongoing experiment of human evolution and see what it tells us.
They found that even people with very similar nuclear DNA (nDNA) genomes can have highly divergent mitochondrial DNA (mtDNA) and vice versa. Ultimately, their results showed that mitochondrial and nuclear genomes from divergent human populations can co-exist in healthy individuals, indicating that mismatched nDNA-mtDNA combinations are basically harmless and not likely to jeopardize the safety of MR therapy.
We tend to think that the story of our evolution is the story of migration, physical isolation, and genetic diversification, Jordan says. But all throughout that process, there was admixture along the way. Its not like there was a linear, onward march. It confirms and underscores the fact that humans are a relatively evolutionarily young species, and from the genetic perspective, there is complete compatibility between human populations.
Read more here:
Good News for New Assisted Reproductive Tech - Research Horizons
- MOgene Announces Partnership with Intuitive Genomics to Expand Bioinformatics Capabilities - January 28th, 2013 [January 28th, 2013]
- Bioinformatics Organization - Bioinformatics.Org Wiki - January 17th, 2014 [January 17th, 2014]
- Bioinformatics Market by Application (Genomics, Molecular Phylogenetics, Metabolomics, Proteomics, Chemoinformatics ... - April 9th, 2014 [April 9th, 2014]
- Bioinformatics Master of Science - Northeastern ... - April 9th, 2014 [April 9th, 2014]
- Master of Science in Bioinformatics | AAP | JHU - April 9th, 2014 [April 9th, 2014]
- Bioinformatics - Bioinformatics.Org Wiki - April 9th, 2014 [April 9th, 2014]
- Bioinformatics Organization - Bioinformatics.Org - April 9th, 2014 [April 9th, 2014]
- Bioinformatics - Wikipedia, the free encyclopedia - April 9th, 2014 [April 9th, 2014]
- Identified epigenetic factors associated with increased risk of developing cancer - April 10th, 2014 [April 10th, 2014]
- Home | Department of Computational Medicine & Bioinformatics - April 10th, 2014 [April 10th, 2014]
- Bioinformatics tool - Video - April 10th, 2014 [April 10th, 2014]
- individual assignment CADD-Bioinformatics tools - Video - April 10th, 2014 [April 10th, 2014]
- MARC travel awards announced for the 2014 Great Lakes Bioinformatics Conference - April 15th, 2014 [April 15th, 2014]
- PH genome center unveils facility powered by IBM supercomputer - April 15th, 2014 [April 15th, 2014]
- Part 1 : Introduction to Bioinformatics, PDB and EMBL-EBI - Video - April 15th, 2014 [April 15th, 2014]
- Bioinformatics - Video - April 15th, 2014 [April 15th, 2014]
- March's Bioinformatics Papers of Note - April 18th, 2014 [April 18th, 2014]
- BMC Bioinformatics - BioMed Central | The Open Access ... - April 22nd, 2014 [April 22nd, 2014]
- Bioinformaticsweb.co.nr:Open Access Bioinformatics ... - April 22nd, 2014 [April 22nd, 2014]
- Penn Bioinformatics Profiling Identifies a New Mammalian Clock Gene - April 22nd, 2014 [April 22nd, 2014]
- Bioinformatics profiling identifies a new mammalian clock gene - April 22nd, 2014 [April 22nd, 2014]
- UST Bioinformatics 2014 Project YOUTUBE - Video - April 22nd, 2014 [April 22nd, 2014]
- First Sex Determining Genes Appeared In Mammals Some 180 Million Years Ago - April 25th, 2014 [April 25th, 2014]
- Pronounce Medical Words Bioinformatics - Video - April 25th, 2014 [April 25th, 2014]
- Funding Update: NIH Bioinformatics Grants Awarded March 13, April 24, 2014 - April 25th, 2014 [April 25th, 2014]
- BIOINFORMATICS - blogspot.com - April 25th, 2014 [April 25th, 2014]
- Biology, Computers Collide in High-Demand Field of Bioinformatics - Video - April 25th, 2014 [April 25th, 2014]
- Researchers Discover Effect Of Circulating Cell Types On Cardiovascular Health - April 30th, 2014 [April 30th, 2014]
- The Genomics and Bioinformatics Group - April 30th, 2014 [April 30th, 2014]
- BIT001 Bioinformatics assignments 5 and 6 - Video - April 30th, 2014 [April 30th, 2014]
- Visual Genome Analysis Suite Bioinformatics Software Demonstration - Video - May 1st, 2014 [May 1st, 2014]
- Bioinformatics Erasing the line between biology and hacking Krystal Thomas White and Patrick Thomas - Video - May 1st, 2014 [May 1st, 2014]
- Cambridge genomics duo in the steps of Pasteur - May 2nd, 2014 [May 2nd, 2014]
- bioinformatics-phamerator - Video - May 3rd, 2014 [May 3rd, 2014]
- Metal Slug 3 Soundtrack - Bioinformatics Extendido - Video - May 3rd, 2014 [May 3rd, 2014]
- Bioinformatics approach helps researchers find new uses for old drug - May 5th, 2014 [May 5th, 2014]
- Bioinformatics Approach Helps Researchers Find New Use for Old Drug - May 5th, 2014 [May 5th, 2014]
- Biotech industry to touch $7-bn mark by FY15: Study - May 6th, 2014 [May 6th, 2014]
- Biotech industry to touch $7 bn mark by FY15-end: study - May 6th, 2014 [May 6th, 2014]
- How immune cells use steroids - May 9th, 2014 [May 9th, 2014]
- IP Update: New York University, Microsoft among Recent Bioinformatics Patent Winners - May 10th, 2014 [May 10th, 2014]
- Introduction to Bioinformatics Presenter - Video - May 10th, 2014 [May 10th, 2014]
- Dr. Jessica Schlueter Discusses Bioinformatics Research - Video - May 11th, 2014 [May 11th, 2014]
- Bioinformatics Software Carpentry Bootcamp - Session 4 - Video - May 11th, 2014 [May 11th, 2014]
- SBRI backs Eagles genomic data technology - May 12th, 2014 [May 12th, 2014]
- Bioinformatics firm SolveBio Seeks to Build Business on Providing Painless Access to Curated Data - May 16th, 2014 [May 16th, 2014]
- Szilak Lab Bioinformatics and Molecule Design, HUNGARY (MIT-LS 2014) - Video - May 16th, 2014 [May 16th, 2014]
- Happy birthday Prof Usman from bioinformatics team - Video - May 16th, 2014 [May 16th, 2014]
- KARUNYA BIOINFORMATICS - Video - May 18th, 2014 [May 18th, 2014]
- Global Market for Biomarkers to Reach $53.6 Billion in 2018; Bioinformatics to Move at 17.4% CAGR - May 20th, 2014 [May 20th, 2014]
- Careers in Bioinformatics and Precision Medicine - Career Development Week - Video - May 21st, 2014 [May 21st, 2014]
- Big Data Lets Cancer Researchers Put Old Drugs to New Uses - May 22nd, 2014 [May 22nd, 2014]
- Fugeneio The Fest - Fugeitorium - Bioinformatics Experience in 3D - Video - May 22nd, 2014 [May 22nd, 2014]
- The Hyve - OpenSource Bioinformatics - Video - May 24th, 2014 [May 24th, 2014]
- DNA sequences on the go, with an app born in a Singapore lab - May 29th, 2014 [May 29th, 2014]
- :: 29, May 2014 :: POCKET SCIENCE: NEW MOBILE APPLICATION ENABLES DNA ANALYSIS ON THE GO - May 29th, 2014 [May 29th, 2014]
- Bioinformatics Market is Expected to Grow at a CAGR of over 23.0% from 2014 to 2020 New Report Published By Grand View ... - May 29th, 2014 [May 29th, 2014]
- Professor Bud Mishra, PhD Joins the Science Advisory Board of InSilico Medicine Engaged in Aging Research for Drug ... - May 30th, 2014 [May 30th, 2014]
- A holistic view on bioinformatics market - Video - June 1st, 2014 [June 1st, 2014]
- Viral Safety Testing using an advanced next generation sequencing and bioinformatics platform - Video - June 1st, 2014 [June 1st, 2014]
- Balti and Bioinformatics - Tom Connor - CLIMB - Video - June 2nd, 2014 [June 2nd, 2014]
- Global Bioinformatics Market All Set to Register a CAGR of 21.2% According to The Newly Added Report at Analyze Future - June 4th, 2014 [June 4th, 2014]
- Bioinformatics basic database and tools - Video - June 4th, 2014 [June 4th, 2014]
- Bioinformatics Market Reports by Analyze Future - Video - June 4th, 2014 [June 4th, 2014]
- Bioinformatics | Johns Hopkins University Engineering for ... - June 6th, 2014 [June 6th, 2014]
- Global Bioinformatics Market Report by Truemarketresearch - Video - June 7th, 2014 [June 7th, 2014]
- A Web-Based System for Automatic Bioinformatics Data Classification - Video - June 12th, 2014 [June 12th, 2014]
- Bioinformatics Welcome Video - Video - June 12th, 2014 [June 12th, 2014]
- Bioinformatics Services: Surfing the Data Wave - Video - June 12th, 2014 [June 12th, 2014]
- 4th International Conference on Proteomics & Bioinformatics - Video - June 12th, 2014 [June 12th, 2014]
- Institute of Bioinformatics featured on Rajyasabha TV - Video - June 14th, 2014 [June 14th, 2014]
- Global Bioinformatics Market - Analysis, Opportunities, Segmentation and Forecast, 2013 - 2020 - Video - June 21st, 2014 [June 21st, 2014]
- 6/18/14 Bioinformatics: Computer Technology & Biological Info on Across The Fence - Video - June 21st, 2014 [June 21st, 2014]
- JAX, Frasergen announce cancer genomics facility in Hubei Province, China - June 22nd, 2014 [June 22nd, 2014]
- UK-Colombia alliance on global food security - June 22nd, 2014 [June 22nd, 2014]
- Global Bioinformatics Market Size, Trends, Analysis, Report, Growth, Forecast 2013 - 2020 - Video - June 23rd, 2014 [June 23rd, 2014]
- Aging Accelerates Genomic Changes, Signaling Challenges for Personalized Medicine - June 24th, 2014 [June 24th, 2014]
- Researchers treat incarceration as a disease epidemic, discover small changes help - June 26th, 2014 [June 26th, 2014]
- Atul Butte, MD, discusses bioinformatics in pediatric health, Packard Children's Hospital - Video - June 27th, 2014 [June 27th, 2014]
- Metal Slug 3 OST#23 Bioinformatics - Video - June 27th, 2014 [June 27th, 2014]