1.Research progress in Lamins in malignant tumors.
Haixiao DENG ; Zeyuan YU ; Jihe KANG ; Junjie QIN ; Xiangyan JIANG ; Zuoyi JIAO
Journal of Central South University(Medical Sciences) 2020;45(12):1490-1498
Changes in nuclear morphology are common in malignant tumors, but the underlying molecular mechanisms remain poorly understood. Lamins is involved in supporting nuclear structure, and the expression of Lamins is the molecular basis for nuclear morphological changes during tumor progression. In recent years, the research on the relationship between Lamins and malignant tumors has made great progress. Lamins is of great value in the diagnosis, treatment, and prognosis of various malignant tumors.
Cell Nucleus
;
Humans
;
Lamins/genetics*
;
Neoplasms/genetics*
;
Prognosis
2.Lamin A/C mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans.
Kyuyoung SONG ; Marie Pierre DUBE ; Jiyoung LIM ; Ilsun HWANG ; Inchul LEE ; Jae Joong KIM
Experimental & Molecular Medicine 2007;39(1):114-120
Dilated cardiomyopathy (DCM) is characterized by cardiac dilation and systolic dysfunction. So far sixteen genes have been shown to cause autosomal dominant familial dilated cardiomyopathy (FDC). We identified a large Korean family from the Jeju island showing a clear Mendelian inheritance of FDC. A genomewide linkage scan at 9 cM marker density identified a peak multipoint LOD score of 2.82 at D1S195. Haplotyping of the region with 15 additional markers defined a candidate interval that included a known candidate gene encoding the lamin A/C (LMNA). Sequencing of the LMNA exons revealed one missense mutation at C568T (Arg190Trp) in the alpha-helical rod domain of the LMNA gene cosegregating with FDC with conduction-system disease. The same mutation was found in patients of another Korean family with FDC without conduction-system disease. Upon screening 14 sporadic DCM cases, we found three LMNA mutations including a case having a previously described (Glu161Lys) mutation and two having novel mutations (Glu53Val and Glu186Lys). Our results suggest that variable genotypes of laminopathy are implicated in not only familial but also considerable proportion of sporadic DCM.
Pedigree
;
Mutation/genetics
;
Molecular Sequence Data
;
Male
;
Lamins/classification/*genetics
;
Korea
;
Humans
;
Genetic Predisposition to Disease
;
Female
;
Cardiomyopathy, Dilated/*genetics/*pathology
;
Base Sequence
;
Amino Acid Sequence
;
Adult
3.A lamin-like protein gene is down-regulated in human gastric cancer.
Gangshi WANG ; Mengwei WANG ; Benyan WU ; Weidi YOU
Chinese Journal of Medical Genetics 2003;20(2):119-122
OBJECTIVETo clone human gastric cancer related gene and to analyze its expression profile in gastric mucosal tissues.
METHODSPaired tumor, paratumor and non-tumor specimens from 7 gastric adenocarcinoma patients (male 4, female 3, with average age 51 +/- 18 years) were studied by means of fluorescent differential display reverse transcription polymerase chain reaction (DDRT-PCR). The differentially expressed cDNA bands of interest were cloned and analyzed by Northern blot and in situ hybridization. Thirty cases (male 23 female 7 with average age 59 +/- 8 years) of paired paraffin-embedded gastric tumor and non-tumor tissues were used in in situ hybridization analysis.
RESULTSA gene expressed much lower in 6 out of 7 tested tumor samples than in their normal and paratumor counterparts was identified. It was named GCRG123. Northern blot analysis confirmed the differential expression. Human multiple tissue Northern blot analysis showed that GCRG123 expressed in various adult human tissues including thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocyte. Sequence analysis revealed that GCRG123 (GenBank accession number AF454554) was a lamin like protein gene. It had one open reading frame which consisted of 49 amino acids (GenBank accession number AAL61668.1). In situ hybridization analysis showed a high GCRG123 expression level in normal gastric epithelium and pylori glands, but low expression level in tumor as well as dysplasia and most intestinal metaplasia at the paratumor regions.
CONCLUSIONA lamin-like protein gene was identified in human gastric mucosa, it is down-regulated in gastric cancer and its precancerous leisions.
Adult ; Aged ; Blotting, Northern ; Cloning, Molecular ; DNA, Neoplasm ; chemistry ; genetics ; Down-Regulation ; genetics ; Female ; Gene Expression Regulation, Neoplastic ; Humans ; In Situ Hybridization ; Lamins ; genetics ; Male ; Middle Aged ; Molecular Sequence Data ; RNA, Messenger ; genetics ; metabolism ; Sequence Analysis, DNA ; Stomach Neoplasms ; genetics