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April 20, 2018April 20, 2018

#AAN2018 – Mutation in USMG5 Gene Causes Leigh Syndrome, Study Shows

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Researchers found that a mutation in the USMG5 gene causes Leigh syndrome and deficient energy production in cells. This is the first evidence linking alterations in this gene to ... Read more

April 13, 2018April 13, 2018

Some Antioxidants Show Benefits in Models of Mitochondrial Disease, Study Reports

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The antioxidants vitamin E and N-acetylcysteine (NAC) prolonged survival and protected against brain damage in models of mitochondrial disease, a study shows. The compounds will now be tested in clinical ... Read more

April 13, 2018April 12, 2018

NIH Agency Pioneers Collaborative Research into Rare Diseases

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A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. ... Read more

April 6, 2018April 6, 2018

Genetics Foundation to Donate Adapted Bikes to Charlotte-Area Children with Genetic Conditions During Day of Caring

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Children living with genetic or mitochondrial disease in Charlotte, North Carolina, will soon be able to ride new adapted bikes donated by the ACMG Foundation for Genetic and Genomic ... Read more

March 26, 2018March 26, 2018

Gene Mutation Leads to Early Childhood Neurodegenerative Disorder, Researchers Find

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Researchers found that inherited mutations in the PMPCB gene lead to a wide range of impairments in mitochondria and cause a form of early childhood neurodegenerative disorder in members of ... Read more

March 23, 2018March 23, 2018

Abnormal Protein Interaction Impairs Mitochondrial Function, May Lead to Neurodegenerative Disorders, Study Suggests

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The normal interaction between two key members of the same mitochondrial protein family is essential to maintain proper energy production and prevent oxidative damage associated with neurodegenerative diseases, Wayne ... Read more

March 21, 2018March 21, 2018

Mitochondrial DNA Reaction Can Lead to Mutations That Cause Disease, Study Reports

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Mitochondrial DNA can react with certain chemicals in the body to produce compounds that trigger genetic mutations — and the mutations can lead to mitochondrial disease, a study reports. ... Read more

March 19, 2018March 19, 2018

New Cellular Pathway Helps Protect Mitochondria During Stress, Study Shows

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A specific branch of cells’ stress-response pathway called unfolded protein response (UPR) may help protect mitochondria, new research shows. This finding suggests that controlling this particular branch may help ... Read more

March 19, 2018March 19, 2018

Genome Sequencing and Its Clinical Potential Focus of NYC Rare Disease Day Event

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Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare ... Read more

March 16, 2018March 16, 2018

Protein That Helps Our Circadian Clocks and Mitochondria Work Together Identified in Study

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Exactly how the circadian rhythm — our 24-hour internal clocks — and mitochrondria — our cell’s energy producers — cross talk to coordinate their work and maintain cellular health appears ... Read more

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