MeSH tree: C18.452.132.100.412
Sildenafil—an active ingredient also marketed under the name of Viagra—improves symptoms in patients with Leigh syndrome. This has now been reported in the journal Cell by researchers at Charité—Universitätsmedizin ...
Mar 11, 2026
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Virginia Tech researchers have discovered an indication hidden in the brain that may help doctors identify children suffering from a rare genetic disease earlier. Their findings are published in EMBO Molecular Medicine.
Jan 28, 2026
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A team led by the UAB Institut de Neurociències (INc-UAB) has for the first time identified the mechanism behind a potentially fatal type of epilepsy, a symptom of mitochondrial diseases. The discovery, based on mouse models, ...
Oct 27, 2025
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As we age, the genes in our cells accumulate more mutations. This is one of the contributory factors to age-related diseases and the aging process. However, in a new study published in Science Advances, researchers have discovered ...
Ten years after the UK became the first country to legalize mitochondrial donation, the first results from the use of these high-profile reproductive technologies—designed to prevent passing on genetic disorders—have ...
Jul 19, 2025
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For the average person, living at high altitude—where oxygen is sparser than at sea level—can have health benefits ranging from lower rates of heart disease to increased endurance. But for those born with inherited mitochondrial ...
Feb 19, 2025
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A study led by the UAB Institut de Neurociències and published in the journal Nature Communications demonstrates in animal models how daily administration of cannabidiol (CBD), a substance obtained from the cannabis plant, ...
Sep 6, 2024
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Zebrafish have revolutionized research into a wide variety of rare and complex genetic diseases. In early development stages, their transparent bodies allow researchers to more easily study tissues and organs. However, studying ...
Sep 20, 2023
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Researchers from Children's Hospital of Philadelphia (CHOP) developed two new zebrafish models for studying a specific genetic form of mitochondrial disease that represents the most common cause of Leigh syndrome. Using these ...
Feb 21, 2023
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Maggie Carmichael wasn't developing like other kids. As a toddler, she wasn't walking and had a limited vocabulary for her age.
Jul 26, 2022
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