Wang Hongyan/Wang Chenji team collaborated to reveal a new pathogenic mechanism of KCTD7 mutation in neuronal lipofuscinosis

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Lysosomes can digest a variety of specific biological macromolecules such as nucleic acids, proteins, lipids and glycogen due to their unique more than 60 acid hydrolase.

A total of 13 gene mutations have been found to cause NC.

On August 3 , 2022 , the team of Professor Wang Hongyan from the Obstetrics and Gynecology Hospital of Fudan University and the team of Associate Researcher Wang Chenji from the School of Life Sciences jointly published an online publication titled KCTD7 mutations impair the trafficking of lysosomal in Science Advancesenzymes through CLN5 accumulation to cause neuronalResearch paper on ceroid lipofuscinoses (Figure

The researchers first constructed a KCTD7 knockout cell line and found that KCTD7- deficient cells not only reproduced the patient-specific dark osmium deposits and fingerprint-like features on electron microscopy, but also identified other severe lysosomal defects associated with Phenotypes, including abnormal accumulation of neutral lipids and glycogen particles, defects in autophagy, decreased mTORC1 signaling, decreased localization efficiency of lysosomal hydrolases in lysosomes, and markedly increased lysosome-related cell dea.

In conclusion, the researchers revealed for the first time that KCTD7 plays a key role in the maintenance of protein homeostasis and lysosomal function homeostasis, discovered that two NCL -related proteins , KCTD7 and CLN5 , were biochemically related to each other, and explained KCTD7 Pathological significance of the mutation (F.

Wang Yalan, a postdoctoral fellow at the Obstetrics and Gynecology Hospital Affiliated to Fudan University, is the first author of the pap.

Original link: https://d.