Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.

ABSTRACT:

Background

Neurofibromatosis type 1 (NF1) is characterized by an extreme clinical variability both within and between families that cannot be explained solely by the nature of the pathogenic NF1 gene mutations. A proposed model hypothesizes that variation in the levels of protein isoforms generated via alternative transcript processing acts as modifier and contributes to phenotypic variability.

Results

Here we used real-time quantitative PCR to investigate the levels of two major NF1 mRNA isoforms encoding proteins differing in their ability to control RAS signaling (isoforms I and II) in the peripheral blood leukocytes of 138 clinically well-characterized NF1 patients and 138 aged-matched healthy controls. As expected, expression analysis showed that NF1 isoforms I and II l

SUBMITTER: Assunto A 

PROVIDER: S-EPMC6858644 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature