Details

Autor(en) / Beteiligte

• Piao, Sun
• Ying, Li
• Fan, Liu
• Lu, Wang

Titel

Generation and analysis of TPI deficiency zebrafish model

Ist Teil von

• Yíchuán, 2024-03, Vol.46 (3), p.232

Ort / Verlag

China

Erscheinungsjahr

2024

Quelle

MEDLINE

Beschreibungen/Notizen

• Triosephosphate isomerase deficiency (TPI DF) is a severe multisystem degenerative disease, manifested clinically as hemolytic anemia, neuromuscular abnormalities, and susceptibility to infection, frequently leading to death within 5 years of onset. There is a lack of effective clinical treatment as the pathogenesis underlying TPI DF remains largely unknown. In this study, we generate a transgenic zebrafish line [Tg(Ubi:TPI1 -eGFP)] with the human TPI1 (hTPI1 ) mutation, which is the most recurrent mutation in TPI DF patients. Overexpression of hTPI1 affects the development of erythroid and myeloid cells and leads to impaired neural and muscular development. In conclusion, we create a TPI DF zebrafish model to recapitulate the majority clinical features of TPI DF patients, providing a new animal model for pathogenesis study and drug screening of TPI DF.