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Novel Biomarker for Alzheimer’s Disease

Researchers from the Korea Brain Research Institute (KBRI) announce the discovery of increase specific expression of Ube2h gene in blood of Alzheimer’s Disease patients.

To maintain homeostasis, the human body continuously undergoes processes of synth-esis and degradation of protein. These proteins when marked by ubiquitination will be degraded by the cell’s organelle known as a proteasome. Errors during this process can cause unnecessary accumulation of unwanted proteins in the cells, causing diseases such as cancer.

The research team led by Dr Jae-Yeol Joo and Dr Key-Hwan Lim found for the first time the presence of an increase in specific expression of the Ube2h gene in the blood of Alzheimer’s Disease (AD) patients. The discovery was published in the May Special Issue of the International Journal of Molecular Sciences.

Protein ubiquitination consists of a series of reactions for E1, E2 and E3 enzymes. Studies have demonstrated that the overexpression E2 enzymes is associated with neurodegenerative disease, however the specific enzymes which are related still remains unclear.

The research team analyzed gene expression levels in AD patients using transcriptome analysis, and identified an increased specific expression of the Ube2h gene (a subfamily of E2 enzymes) in their blood. The same phenomenon was also identified in the blood of AD model mouse.

Suppression of Ube2h gene expression in normal cells did not have effect on the expression of Tau and Parkin, which were known protein markers for AD, showed no significant differences. The results therefore suggest that the Ube2h gene can regulate the expression of the unknown AD related proteins and is a novel biomarker for AD.

In the study it was found that significant correlation between ubiquitination enzymes and neurodegenerative diseases as well as suggesting a possible new biomarker for the diagnosis of AD and dementia.

A patent has been filed for an AD diagnosis and treatment method featuring the detection of the Ube2h gene. The team hopes to transfer this technology commercially to facilitate the development of AD diagnosis kits using Ube2h gene as a blood biomarker.

“We are working to discover AD-specific genes using next-generation sequencing (NGS) and to make use of such findings by establishing a big data set, said Dr. Jae-Yeol Joo, a senior researcher at KBRI. “For the research community, we will provide a platform for follow-up research. For industry, we hope our technology can be applied to ensure the quick and precise diagnosis and treatment of dementia.”

This research was conducted as a KBRI in-house project supported by the Ministry of Science and ICT (MSIT), the Basic Research Program of the National Research Foundation of Korea (NRF) and the Individual Basic Research Program of the Ministry of Education (MOE). [APBN]