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Estudo de expressão gênica em pacientes com calcificações cerebrais portadores de mutações no gene SLC20A2
| Content Provider | Semantic Scholar |
|---|---|
| Author | Pimentel, Lylyan F. |
| Copyright Year | 2015 |
| Abstract | The Primary Familial Brain Calcifications (PFBC) is a rare genetic disease which present an autosomal dominant inheritance and is characterized by bilateral calcifications affecting basal ganglia. In 2012 it was identified the first mutation in SLC20A2 associated with PFBC. The SLC20A2 gene is responsible for encoding type III carrier of inorganic phosphate (Pi) sodium-dependent (PiT2) and it is reported as the major element of the PFBC pathological mechanism, once their functional loss is associated with the Pi accumulation in extracellular matrix. Therefore, this study aimed to evaluate the SLC20A2 expression under the effect of mutations, in patients with PFBC. The cDNA was synthesized from total RNA isolated from patients peripheral blood. Quantitative Real Time PCR (qRT-PCR) was used to measure mRNA level amongst patients and controls based on the ΔΔCt method. The results showed that the SLC20A2 expression was slightly decreased (~ 10%) in the proband with a missense mutation, compared to control group expression. The results of cDNA sequencing showed reduced expression compared to genomic DNA mutant allele, indicating that the mRNA decay is occurring mediated by the presence of nonsense mutation. Together with the findings already reported in the literature, our data reinforce the need to screening for genes associated to the PFBC and the mutations involved with their molecular bases. |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | https://repositorio.ufpe.br/bitstream/123456789/17036/1/Disserta%C3%A7%C3%A3o_Lylyan_2014.2.pdf |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
