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Heterozygous TYROBP deletion (PLOSLFIN) is not a strong risk factor for cognitive impairment.

Abstract：

:Biallelic loss-of-function mutations in TYROBP and TREM2 cause a rare disease that resembles early-onset frontotemporal dementia with bone lesions called polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Some PLOSL-causing variants in TREM2 have also been associated with Alzheimer's disease when heterozygous. Here, we studied the PLOSLFINTYROBP deletion that covers 4 of the gene's 5 exons. We genotyped 3220 older Finns (mean age 79, range 58-104) and found 11 deletion carriers (mean age 78, range 60-94). The carrier prevalence was 0.0034 (1 in 293) that matches previous findings in younger cohorts suggesting no significant early mortality. By comparing Mini-Mental State Examination (MMSE) scores and diagnoses of dementia, we did not find any significant differences between TYROBP deletion carriers and noncarriers (all p-values >0.5). Neuropathological analysis of 2 deletion carriers (aged 89 and 94 years) demonstrated only minimal beta amyloid pathology (Consortium to Establish a Registry for Alzheimer's Disease (CERAD) score 0). Collectively these results suggest that heterozygous carriership of the TYROBP deletion is not a major risk factor of cognitive impairment.

journal_name

Neurobiol Aging

journal_title

Neurobiology of aging

authors

Kaivola K,Jansson L,Saarentaus E,Kiviharju A,Rantalainen V,Eriksson JG,Strandberg TE,Polvikoski T,Myllykangas L,Tienari PJ

doi

10.1016/j.neurobiolaging.2017.12.008

subject

Has Abstract

pub_date

2018-04-01 00:00:00

pages

159.e1-159.e4

eissn

0197-4580

issn

1558-1497

pii

S0197-4580(17)30403-7

journal_volume

64

pub_type

杂志文章

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