Identification and functional analysis of a novel phospholipase D2 gene mutation associated with familial systemic lupus erythematosus. / ä¸å®¶ææ§ç³»ç»æ§çº¢æç¼ç®æå
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Zhong Nan Da Xue Xue Bao Yi Xue Ban
; 46(3): 234-239, 2021 Mar 28.
Article
em En, Zh
| MEDLINE
| ID: mdl-33927069
ABSTRACT
OBJECTIVES:
Systemic lupus erythematosus (SLE) is a kind of autoimmune inflammatory connective tissue disease which seriously endangers human health. Genetic factors play a key role in the pathogenesis of SLE. This study aims to investigate a novel phospholipase D2 (PLD2) mutation associated with familial SLE, and further explore the underlying mechanism of the mutation in SLE.METHODS:
The blood samples from a SLE patient, the patient's parents, and 147 normal controls were collected and DNA was extracted. Whole genome high-throughput sequencing was performed in the patient and her parents and the results were further analyzed by various bioinformatics methods. The wild type (wt), mutant type (mu), and negative control PLD2 plasmids were further constructed and transfected into 293 cells. The expression level of HRAS protein in 293 cells was detected by Western blotting.RESULTS:
In this SLE family, the female SLE patient and her mother, 1 in generation II and 1 in generation III had typical clinical manifestations of SLE, and all of them had lupus nephritis at early stage. The genetic characteristics are consistent with autosomal dominant inheritance. A novel PLD2 heterozygous mutation (c.2722C>T) was found in the patient and her mother, but not in her father and other normal controls. Compared with wtPLD2 plasmid and negative control PLD2 plasmid, the expression of HRAS in 293 cells transfected with muPLD2 plasmid was significantly up-regulated (both P<0.05).CONCLUSIONS:
PLD2 c.2722C>T mutation may be one of the pathogeny of SLE in this family.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Nefrite Lúpica
/
Lúpus Eritematoso Sistêmico
Idioma:
En
/
Zh
Ano de publicação:
2021
Tipo de documento:
Article