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Recent discovery points to a novel molecular mechanism for Alzheimer's disease

Thursday 30 March 2017

Researchers at Rush University Medical Center in Chicago and Brigham and Women’s hospital have found a novel gene involved in cognitive diseases like Alzheimer’s disease. The gene, PTPRD, is associated with the accumulation of neurofibrillary tangles (NFT) in the brain. Neurofibrillary degeneration is one of the defining features of Alzheimer disease.

The PTPRD gene may point to a new molecular mechanism driving disease like Alzheimer. "This study is an important first step; however, the result needs further validation and the mechanism by which the PTPRD gene and the variant that we have discovered contribute to the accumulation of NFT remains elusive," said Phil De Jager, co-principal investigator at BWH.

The key challenge now is to identify the potential multi-omics interactions that drive the involvement of PTPRD in the accumulation of NFT. Using the Euretos Knowledge Platform millions of annotations can be assessed quickly to determine this. Because of the novelty of the discovery, no relevant direct relation to NFT accumulation is found. Indirect interactions, however, provide multiple potential candidates:

Focusing on genetic interactions only, 7 genes interacting with PTPRD and 26 genes related to neurofibrillary degeneration are found that interact with each other and provide relevant candidates to assess:

As can be seen well known Alzheimer related genes such as APP, APOE, PSEN1 and PSEN2 interact with genes that are regulated by PTPRD. From the PTPRD perspective the genes MDM2, HSPA8, HSPA5, HSPA2, HNRNPH1, H1FX and AHR are the key gene candidates that may mediate the interaction with neurofibrillary degeneration.

In terms of molecular mechanisms associated with these 26 genes, a number of relevant candidates are suggested by using the Euretos Analytics application:

Key mechanisms in Tau pathology are suggested such as hyperphosphorylation (involving 9 of the 26 genes), autophagy (11 genes), phagocytosis (8 genes) and the glucose metabolism (9 genes).Typical brain related processes such as neurogenesis (14 genes) and synaptic transmission (12 genes) are further relevant processes.

The Euretos Knowledge Platform may also be used to determine which of these PTPRD interacting genes are the most likely candidates by assessing the interaction patterns with neurofibrillary degeneration. Based on this analysis the following order of analysis is suggested:

Further detailed research is of course required to understand how these genes may be involved in neurofibrillary degeneration. For further background on the specific interactions, please contact us and we will be happy to share the detailed results.The scientific publication is available here.

About this series - The purpose of the Euretos Research Note series is to provide a data analytics perspective on recent life sciences publications. The series focuses on two types of questions: (1) Did the available data already point in the direction of a discovery? (2) What further research angles does the available data suggest?