Bilateral striatal necrosis due to homoplasmic mitochondrial 3697G > A mutation presents with incomplete penetrance and sex bias

ConclusionHomoplasmic m.3697G>A mutation could be associated with BSN, which expanded the clinical spectrum of m.3697G>A. Our preliminary investigations had not found the underlying modifiers to support the double hit hypothesis, while the high level of estrogens in the female patients might exert a potential compensatory effect on mutant cell metabolism.

https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.541?af=R

Source: Molecular Genetics & Genomic Medicine - January 8, 2019 Category: Genetics & Stem Cells Authors: Shanshan Zhong, Shumeng Wen, Yusen Qiu, Yanyan Yu, Ling Xin, Yang He, Xuguang Gao, Hezhi Fang, Daojun Hong, Jun Zhang Tags: ORIGINAL ARTICLE Source Type: research