Genotype-environment interaction drives the onset of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency in carriers of single heterozygous ETFDH variants
Jing Ma, Huiqiu Zhang, Jiaqi Jiao, Menghan Su, Junsen Zhao, Dan Liu, Qi Wen, Jianli Wang, Juan Wang, Weisong Duan, Xueli Chang, Junhong Guo, Wei Zhang · 2026
Read Genotype-environment interaction drives the onset of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency in carriers of single heterozygous ETFDH variants by Jing Ma, Huiqiu Zhang, Jiaqi Jiao, Menghan Su, Junsen Zhao, Dan Liu, Qi Wen, Jianli Wang, Juan Wang, Weisong Duan, Xueli Chang, Junhong Guo, Wei Zhang (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13450254.txt.
Description
Jing Ma and colleagues probed a rare fat-burning illness in 2026, asking why some people with one faulty gene copy get sick while kin with the same copy stay well. This illness, tied to the ETFDH gene, most often needs two faulty copies, yet about one in ten patients has only one. The team guessed that one faulty copy plus stress from the world around them could tip the balance.
Skin cells from a patient and his well father, who shared the same gene change, were grown with varied riboflavin. The cells were checked for gene activity, fat buildup, energy use, cell life, and stress signals. Lab-made cell lines and mice with a like gene change gave the test a wider base. The results back a combined model, in which strain reveals a hidden weak spot. Kin with one faulty copy gain a clearer tale for varied illness.
Catalog record
| CREATOR | Jing Ma, Huiqiu Zhang, Jiaqi Jiao, Menghan Su, Junsen Zhao, Dan Liu, Qi Wen, Jianli Wang, Juan Wang, Weisong Duan, Xueli Chang, Junhong Guo, Wei Zhang |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 54 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |