Frataxin deficiency drives cardiac dysfunction and transcriptional dysregulation in Friedreich ataxia iPSC model
Jarmon G Lees, Haoxiang Zhang, Lebei Jiao, Anne M Kong, Ren Jie Phang, Li Li, Nan Su, Sebastian Bass-Stringer, Hei-Yi H Woo, Anthony S Mukhtar, Alice Pébay, Mirella Dottori, Louise Corben, Martin Delatycki, Roger Peverill, Stephen Wilcox, Jarny Choi, Jeffrey M Pullin, Davis McCarthy, Jill S Napierala, Marek Napierala, Shiang Y Lim · 2026
Read Frataxin deficiency drives cardiac dysfunction and transcriptional dysregulation in Friedreich ataxia iPSC model by Jarmon G Lees, Haoxiang Zhang, Lebei Jiao, Anne M Kong, Ren Jie Phang, Li Li, Nan Su, Sebastian Bass-Stringer, Hei-Yi H Woo, Anthony S Mukhtar, Alice Pébay, Mirella Dottori, Louise Corben, Martin Delatycki, Roger Peverill, Stephen Wilcox, Jarny Choi, Jeffrey M Pullin, Davis McCarthy, Jill S Napierala, Marek Napierala, Shiang Y Lim (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/PMC13538398.txt.
Description
Jarmon G Lees and colleagues model heart disease in Friedreich ataxia using stem cells in a 2026 study. The disorder stems from expanded repeats that lower frataxin, a mitochondrial protein, and heart failure drives most deaths. Heart cells grown from three patients were paired with corrected twin lines where the expansion was removed. Beating behavior, cell health, iron stress, and gene activity were compared.
Patient heart cells beat abnormally with slow tightening and relaxing, swelled in size, mishandled calcium, and showed more stress, splitting power units, and cell death. Added iron worsened the flaws. Gene scans flagged two consistently disturbed genes, and silencing either cut cell death without restoring frataxin. One silencing also calmed stress signals. The authors nominate both genes as early markers and drug leads.
Catalog record
| CREATOR | Jarmon G Lees, Haoxiang Zhang, Lebei Jiao, Anne M Kong, Ren Jie Phang, Li Li, Nan Su, Sebastian Bass-Stringer, Hei-Yi H Woo, Anthony S Mukhtar, Alice Pébay, Mirella Dottori, Louise Corben, Martin Delatycki, Roger Peverill, Stephen Wilcox, Jarny Choi, Jeffrey M Pullin, Davis McCarthy, Jill S Napierala, Marek Napierala, Shiang Y Lim |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 49992 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |