Publications by authors named "Alexandria Padro"
ATP1A1-linked diseases require a malfunctioning protein product from one allele.
Biochim Biophys Acta Mol Cell Res
January 2024
Article Synopsis
- Heterozygous variants in the ATP1A1 gene are linked to diseases such as primary hyperaldosteronism and Charcot-Marie-Tooth disease (CMT) due to loss of Na/K-ATPase function.
- The research included testing heterozygous Atp1a1 knockout mice for neuromuscular issues, along with a healthy human with a truncation variant, revealing that they appeared normal without disease symptoms.
- Findings suggest that simply having protein-null variants might not lead to disease, indicating a need for a malfunctioning gene product for disease development and showing potential low penetrance or late onset of related conditions.
Article Synopsis
- Heterozygous germline variants in the Na/K-ATPase (NKA) gene can lead to diseases like primary hyperaldosteronism and Charcot-Marie-Tooth disease (CMT), with CMT variants causing NKA loss-of-function.
- The NKA enzyme is crucial for maintaining Na and K gradients needed for nerve signaling and cell survival, and its α1 subunit is particularly important in peripheral nerves.
- Research with knockout mice and a healthy adult human carrying a protein-null variant suggests that the absence of a functioning NKA gene product is not solely responsible for disease development, indicating that these variants may have low disease penetrance or later onset.