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Educational Resources
Mitochondrial DNA is the small circular chromosome found inside mitochondria.
… Mitochondrial DNA … Mitochondrial DNA is the small circular chromosome found inside mitochondria. … Mitochondrial DNA, Mitochondria, Cell Biology, Inheritance … Mitochondrial DNA is the circular chromosome found inside the …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
… Children affected by mitochondrial disease have impaired oxidative phosphorylation … are found in nearly all cells of the body, children with mitochondrial disease can have multisystemic problems, … which may lead to disease progression.  … The Metabolism, Infection and Immunity (MINI) Section’s mission …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… Metabolism is a sequence of chemical reactions that take … the generation of energy in our bodies. Inborn errors of metabolism (IEM) are a group of disorders that causes a block … Carbohydrate disorders Galactosemia, fructosemia Mitochondrial disorders MELAS, MERFF, pyruvate dehydrogenase …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… One of the first human studies on how mitochondrial function impacts immune cells to guide future … found that altered B cell function in children with mitochondrial disorders led to a weaker and less diverse … M.D., assistant research physician in NHGRI’s Metabolism, Infection and Immunity Section and co-first …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… The Metabolism, Infection and Immunity (MINI) Study is a … immunity and clinical decline in individuals with mitochondrial disease. Mitochondrial diseases are a group of disorders caused by …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
… An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 … and the implications of COVID19 in individuals with mitochondrial disease or their family members is unknown. Individuals with mitochondrial disease may be particularly at risk for decline …
Research at NHGRI
The Metabolic Medicine Branch houses clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
… on several conditions, including organic acidemias, mitochondrial disorders and skeletal dysplasias. All … metabolic disorders, study immune manifestations caused by mitochondrial dysfunction and create mouse models to test …
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryxâ„¢ fingerstick at-home sampling.
… the role of viral infection and biomarkers of immunity in mitochondrial disease using new technology with Neoteryx ™ … and biomarkers of the immune system in people with mitochondrial disease by using the Neoteryx ™ … we also invite household members of patients with mitochondrial disease to participate. … This study is open to …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.