RESEARCH PAPER
Buccal epithelial cells as non-invasive biological material for fibrodysplasia ossificans progressiva gene expression studies
 
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1
Universidade Federal de Mato Grosso do Sul, Brazil
 
2
Instituto de Assistência em Pesquisa, Educação e Saúde – Iapes, Brazil
 
3
Universidade Federal de Minas Gerais, Brazil
 
4
Procter and Gamble Health, USA
 
 
Corresponding author
Almir Sousa Martins   

Universidade Federal de Minas Gerais, Belo Horizonte, Brazil
 
 
 
KEYWORDS
TOPICS
ABSTRACT
Introduction and objective:
The congenital disease Fibrodysplasia Ossificans Progressiva (FOP) is extremely rare, characterized by irreversible and intractable skeletal malformations, with devastating heterotopic ossifications. FOP is associated with a change in the amino acid of the ACVR1 protein at position R206H due to a mutation in its respective genetic code. Previous research has observed distinct gene expression profiles between FOP peripheral blood mononuclear cells (PBMC) versus control cells. However, invasive access to biological material in these FOP patients is an obstacle due to possible collection trauma that can cause flare-ups, with undesirable consequences, such as the formation of ectopic ossification. There is, however, a need to obtain biological specimens for research or monitoring of experimental medications. The aim of the study was to obtain total RNA from buccal mucosa epithelial squamous cell scrapings (BEC) from FOP patients.

Material and methods:
BEC samples were collected by scraping the oral mucosa on the inner side of each cheek, using tongue depressor spatulas, followed by stabilization in RNAlater and Trizol extraction of total RNA. The expression profile of eight putative target Genes were analyzed from FOP BEC (n=7) and healthy volunteers (n=5), by mRNA expression through qPCR.

Results:
The results showed differences in basal mRNA expression of ACVR1, TNF-α and COL1 (p < 0.05) genes in FOP, compared to control, characterizing a distinct phenotypic profile of FOP BEC.

Conclusions:
The use of BEC may be an innovative non-invasive biological material for further clinical and molecular analyzes in patients with FOP.

 
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