University of Kentucky

Poster Title

Triggering Receptor Expressed by Myeloid Cells-2 (TREM2) Spicing Forms Effects on Function of Gene and Relationship with Alzheimer Disease

Institution

University of Kentucky

Abstract

Alzheimer disease (AD) is known to be a predominantly sporadic late-onset disease, which increases in prevalence after the age of 65 years. Recent studies have identified that Triggering receptor expressed by myeloid cells-2 (TREM2) heterozygous rare variants can increase the susceptibility of AD. TREM2 is an immunoglobulin-like orphan receptor of the TREM family, which can be expressed in many places like activated macrophages, immature dendritic cells, osteoplasts, and some microglia. Most recent studies suggest that TREM2 is expressed in neuronal cells and none of the above. Other diseases, such as Nasu-hakola disease, are caused by TREM2 losing function. Loss of function in a gene could be caused by alterative splicing which can affect the prevalence of AD. TREM2 has been accredited to being an alternative splicing having a 55 base-pair insert at the end of exon 3, which creates a protein shift and effects where the gene is expressed. We sought to look at other splice forms and where they were expressed. We report that there are 4 different splice forms of TREM2. They are as followed: exon 2 deleted, exon 4 deleted, exon 2/4 deleted, and exon 2/3/4 deleted. Each splice form has an effect on where the gene is expressed. There is also significant reason to believe that when exon 2 is skipped, the prevalence of AD will consequently increase by 2 fold.

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Triggering Receptor Expressed by Myeloid Cells-2 (TREM2) Spicing Forms Effects on Function of Gene and Relationship with Alzheimer Disease

Alzheimer disease (AD) is known to be a predominantly sporadic late-onset disease, which increases in prevalence after the age of 65 years. Recent studies have identified that Triggering receptor expressed by myeloid cells-2 (TREM2) heterozygous rare variants can increase the susceptibility of AD. TREM2 is an immunoglobulin-like orphan receptor of the TREM family, which can be expressed in many places like activated macrophages, immature dendritic cells, osteoplasts, and some microglia. Most recent studies suggest that TREM2 is expressed in neuronal cells and none of the above. Other diseases, such as Nasu-hakola disease, are caused by TREM2 losing function. Loss of function in a gene could be caused by alterative splicing which can affect the prevalence of AD. TREM2 has been accredited to being an alternative splicing having a 55 base-pair insert at the end of exon 3, which creates a protein shift and effects where the gene is expressed. We sought to look at other splice forms and where they were expressed. We report that there are 4 different splice forms of TREM2. They are as followed: exon 2 deleted, exon 4 deleted, exon 2/4 deleted, and exon 2/3/4 deleted. Each splice form has an effect on where the gene is expressed. There is also significant reason to believe that when exon 2 is skipped, the prevalence of AD will consequently increase by 2 fold.