Filamin A Contribution to NF1 Social Deficits
Abstract
Neurofibromatosis type 1 (NF1) is a monogenic disorder caused by loss-of-function mutations in the NF1 gene resulting in NF1 haploinsufficiency. The disorder has a prevalence of 1/3,500 and is characterized by alterations in skin pigmentation, increased tumor susceptibility, and cognitive and social deficits in the majority of children with NF1. Despite the high prevalence of neurological symptoms, the etiology of the behavioral symptoms remains unclear and no treatment is available for the neurological symptoms. Here, our goal is thus to identify a novel molecular target that could lead to therapeutic treatment of neurological symptoms in NF1. Our approach has been to compare NF1 to another monogenic disorder, tuberous sclerosis complex (TSC) that shares similar brain cell pathology and neurological symptoms. In particular, we have identified that an actin-linked molecule, filamin A, contributes to defects in brain cell morphology and social deficits in mice containing brain cells with intracellular defects mimicking those observed in NF1. The present project aims at further characterizing the role of filamin A dysregulation in NF1 pathology and neurological symptoms with an emphasis on social deficits.
Document Details
- Document Type
- DoD Grant Award
- Publication Date
- Aug 07, 2017
- Source ID
- W81XWH1710453
Entities
People
- Angélique Bordey
Organizations
- United States Army
- Yale University