| Abstrakt: |
A recent study conducted by researchers at the University of Cambridge has found that mutations in the DNAJC30 gene are common among Eastern European individuals with Leber hereditary optic neuropathy (LHON), a mitochondrial disease characterized by painless visual loss. LHON was previously believed to be exclusively maternally inherited, but this study reveals an autosomal recessive form of the disease caused by point mutations in the nuclear gene DNAJC30. The researchers emphasize the importance of DNAJC30 screening in patients with undiagnosed LHON, particularly among Eastern European individuals, as it can lead to a better prognosis and response to treatment. [Extracted from the article] |
