Publications by authors named "Megumi Saito-Tsuruoka"
Mol Genet Metab Rep
June 2023
Article Synopsis
- The m.12207G > A variant was first identified in 2006 in a patient with severe symptoms, including developmental delay and muscle weakness, with high heteroplasmy levels in muscle.
- A new case involving a 16-year-old boy with the same variant presented different symptoms, including deafness and epilepsy, while lacking diabetes mellitus (DM), but showed varying heteroplasmy levels compared to his family.
- This case suggests a correlation between phenotype and genotype within the family, highlighting the diversity of symptoms associated with the m.12207G > A variant.
Article Synopsis
- Prenatal genetic diagnosis of mitochondrial diseases caused by defects in nuclear DNA (nDNA) has been studied in various countries, but not yet in Japan.
- In a study involving over 400 patients, 13 families sought prenatal diagnosis, with some pregnancies leading to the birth of healthy babies after being diagnosed with benign variants.
- The findings suggest that severe mitochondrial diseases with potential lethality could benefit from prenatal testing, highlighting the need for careful genetic counseling for families considering their options.
