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April 19, 2011

New Screening Method to Help Diagnose Lipid Storage Disorders in Children

Researchers of Columbia University have discovered a yeast-based screening 'exacerbate-reverse' method to diagnose treatment for fatal childhood disease Niemann-Pick C, an autosomal recessive lipid storage disorder. Columbia University Medical Center associate professor of clinical pae

By cms admin

Researchers of Columbia University have discovered a yeast-based screening ‘exacerbate-reverse’ method to diagnose treatment for fatal childhood disease Niemann-Pick C, an autosomal recessive lipid storage disorder.

Columbia University Medical Center associate professor of clinical paediatrics Stephen Sturley and his team conducted a ‘synthetic lethality screen’ on a yeast model of NC-P to find out which combination of mutations was lethal to the yeast.

Sturley and his team showed that existing cancer drug SAHA, a histone deacetylase (HDAC) inhibitor, can improve the condition of NP-C.

The team found that HDAC genes are responsible for deletion of acetyl group during the process of histone acetylation in the yeast model, and that the accumulation of lipids led to NP-C disease.

Children suffering from NP-C are unable to metabolise lipids properly, leading to accumulation of excess levels of lipids in the liver, spleen and brain.

Symptoms such as balance and gait, slurred speech, and developmental delays can progress to severe cognitive decline, dementia and ultimately death.

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