Mitochondrial proteins and congenital birth defect risk: a mendelian randomization study
This Mendelian randomization study provides evidence that mitochondrial protein levels may be causally implicated in congenital heart, urinary, nervous system, ear, and limb malformations. The findings highlight potential etiological roles for mitochondrial dysfunction in the pathogenesis of structural birth defects. Further large-scale and functional investigations are warranted to corroborate these genetic inference results and elucidate underlying mechanisms that may inform translational applications.
Authors
- Ruhong Zhang (ORCID: https://orcid.org/0000-0002-4507-9280)
- Zhicheng Xu (ORCID: https://orcid.org/0000-0001-8809-4184)
- Xinyu Li (ORCID: https://orcid.org/0000-0003-1417-1874)
- Xia Chen (ORCID: https://orcid.org/0000-0003-2177-7591)
- Qun Zhang (ORCID: https://orcid.org/0000-0003-0558-7544)
- YY Li
- Feng Xu (ORCID: https://orcid.org/0000-0002-6920-3944)
- Datao Li (ORCID: https://orcid.org/0000-0001-8350-6231)
Institutions
- Shanghai Ninth People's Hospital (CN)
Publication Details
- Journal
- BMC Pregnancy and Childbirth
- Published
- 2025-04-14
- DOI
- https://doi.org/10.1186/s12884-025-07562-8
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China