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Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia.

Abstract：

:The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike many other forms of frontotemporal lobar degeneration (FTLD), svPPA has a highly consistent underlying pathology composed of TDP-43 (a regulator of RNA and DNA transcription metabolism). Previous genetic studies of svPPA are limited by small sample sizes and a paucity of common risk variants. Despite this, svPPA's relatively homogenous clinicopathologic phenotype makes it an ideal investigative model to examine genetic processes that may drive neurodegenerative disease. In this study, we used GWAS metadata, tissue samples from pathologically confirmed frontotemporal lobar degeneration, and in silico techniques to identify and characterize protein interaction networks associated with svPPA risk. We identified 64 svPPA risk genes that interact at the protein level. The protein pathways represented in this svPPA gene network are critical regulators of RNA metabolism and cell death, such as SMAD proteins and NOTCH1. Many of the genes in this network are involved in TDP-43 metabolism. Contrary to the conventional notion that svPPA is a clinical syndrome with few genetic risk factors, our analyses show that svPPA risk is complex and polygenic in nature. Risk for svPPA is likely driven by multiple common variants in genes interacting with TDP-43, along with cell death,x` working in combination to promote neurodegeneration.

journal_name

Sci Rep

journal_title

Scientific reports

authors

Bonham LW,Steele NZR,Karch CM,Broce I,Geier EG,Wen NL,Momeni P,Hardy J,Miller ZA,Gorno-Tempini ML,Hess CP,Lewis P,Miller BL,Seeley WW,Manzoni C,Desikan RS,Baranzini SE,Ferrari R,Yokoyama JS,International FTD-Genomic

doi

10.1038/s41598-019-46415-1

subject

Has Abstract

pub_date

2019-07-26 00:00:00

pages

10854

issue

1

issn

2045-2322

pii

10.1038/s41598-019-46415-1

journal_volume

9

pub_type

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