Smith-Kingsmore Syndrome Research Updates – November 2020
Summary of Recent Progresses:
- Dr. Liu’s team generated 46 mutations which include known SKS mutations and new ones identified by the SKS diagnosis team.
- They tested over 12 alleles under conditions deprived of glucose, amino acids and serum, namely total starvation. There was concern about cell health.
- Liu’s team established the conditions to more accurately determine the SKS alleles under glucose, amino acid, or serum starvation, as well as rapamycin inhibition.
- They focused on 6 SKS alleles for their activity under glucose or amino acid starvation. Each variant responded differently to different conditions.
- In collaboration with Dr. Hogenesch at CCHMC, they obtained two mouse models (R1480-C1483 deletion and V2406M). They are breeding the founders. If breeding is successful, they will expand the mice for behavioral, neurological and molecular studies. The cell and mouse model studies will form synergy.
Detailed Progress Report:
The attached progress report, prepared by Dr. Liu’s team, provides more details on the research underway.
