Japanese–European scientists detect novel genetic mitochondrial disorder
Japanese–European scientists detect novel genetic mitochondrial disorder The list of known genetic mitochondrial disorders is ever-growing, and ongoing research continues to identify new disorders in this category. In an article recently published in Brain, a Japanese-European team of scientists, including researchers from Fujita Health University, describe mutations in the LIG3 gene, which plays a crucial role in mitochondrial DNA replication. These mutations cause a previously unknown syndrome characterized by gut dysmotility, leukoencephalopathy, and neuromuscular abnormalities. DNA liga...