Domestic scientists have identified the cause of a rare genetically inherited disorder called Niemann-Pick disease Type C.
 
The Ministry of Science, ICT and Future Planning said Tuesday that Professors Jin Hee-kyung and Bae Jae-sung at Kyungpook National University achieved the results.
 
Niemann-Pick disease Type C occurs when the body cannot properly break down cholesterol and lipids, which collect in the cells of the liver and brain, causing memory impairment and mental deficiency.
 
The researchers found that patients with the disease, known as children's Alzheimer's, showed a decreased level of an enzyme called Sphingosine kinase (SphK), compared to ordinary people.
 
They found that the decrease was caused by vascular endothelial growth factor (VEGF), a signal protein produced by cells that stimulate new blood vessel formation.
 
The study was funded by the ministry and the findings appeared on the online edition of Nature Communications.