Publications by authors named "Sam N Russo"
Several mitochondrial diseases are caused by pathogenic variants that impair membrane phospholipid remodeling, with no FDA-approved therapies. Elamipretide targets the inner mitochondrial membrane where it binds to cardiolipin, resulting in improved membrane stability, cellular respiration, and ATP production. In clinical trials, elamipretide produced clinical and functional improvements in adults and adolescents with mitochondrial disorders, such as primary mitochondrial myopathy and Barth syndrome; however, experience in younger patients is limited and to our knowledge, these are the first case reports on the safety and efficacy of elamipretide treatment in children under 12 years of age.
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- Recent findings on biallelic DNAJC30 variants challenge the idea that Leber hereditary optic neuropathy (LHON) is only passed down from mothers and broaden the understanding of Leigh syndrome, the most common mitochondrial disease in kids.
- A study identified 28 new individuals with a specific DNAJC30 genetic variant: 24 had LHON, 2 had Leigh syndrome, and 2 were asymptomatic, indicating that the genetic impact varies by sex.
- Those with autosomal recessive LHON showed earlier onset and better recovery rates with treatment compared to previously known maternal cases, and the discovery of two more Leigh syndrome patients enhances the link between DNAJC30 and this condition.
In the field of mitochondrial medicine, correlation of clinical phenotype with mutation heteroplasmy remains an outstanding question with few, if any, clear thresholds corresponding to a given phenotype. The m.8344A>G mutation is most commonly associated with myoclonus epilepsy and ragged red fiber syndrome (MERRF) at varying levels of heteroplasmy.
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