New Mutations Found in Mitochondrial DNA That Cause LHON, Study Finds

Researchers have found that certain mutations in the mitochondrial genes, which alone don’t seem to cause disease, are sufficient to trigger Leber’s hereditary optic neuropathy (LHON) when combined. Based on their findings, researchers defend a new approach for diagnosing LHON and perhaps other mitochondrial…

Mitochondrial Replacement Therapy Shows Promise at Preventing Disease, But Challenges Remain

Because treatment for mitochondrial DNA diseases is largely limited to addressing only symptoms, researchers are increasingly looking at mitochondrial replacement therapies as a way to allow women to have genetically related children while reducing the risk of transmitting disease. Mitochondrial replacement therapies involve a new and innovative technology to prevent…

Distinguishing Between Primary and Secondary Mitochondrial Disease Important for Diagnosis, Treatment

A recent review highlights the latest findings in mitochondrial disease and the importance of distinguishing between primary mitochondrial disease (PMD) and secondary mitochondrial disease (SMD) in the diagnosis of patients, as treatments and outcome may be very different for these two cases. The study, “Primary Mitochondrial Disease and Secondary Mitochondrial…

Mitochondrial Genome Alterations Seen as a Risk Factor for Pediatric Acute Myeloid Leukemia

Alterations in mitochondrial DNA (mtDNA) are associated with the risk for pediatric acute myeloid leukemia (AML), according to a study titled “Clinicopathological Implications of Mitochondrial Genome Alterations in Pediatric Acute Myeloid Leukemia” and published in the journal Annals of Laboratory Medicine. Mitochondria are key organelles within cells that are…