Asunto(s)
Síndrome de Boca Ardiente/etiología , Síndrome de Boca Ardiente/psicología , Lóbulo Frontal/patología , Suicidio , Lengua/lesiones , Anciano de 80 o más Años , Síndrome de Boca Ardiente/diagnóstico , Resultado Fatal , Femenino , Lóbulo Frontal/irrigación sanguínea , Humanos , Conducta AutodestructivaRESUMEN
RAS overexpression and its active mutations are involved in malignant tumorigenesis. However, the mutation rates in oral carcinoma cells differ between populations. In the present study, genomic DNA of oral carcinoma cells (HOC313, TSU, HSC2, HSC3, KOSC2, KOSC3, SCCKN, OSC19, Ca9.22, and Ho1u1 cells) or normal gingival fibroblasts (GF12 cells) derived from a Japanese population were amplified by polymerase chain reaction using primer sets, spanning HRAS and KRAS exons. Nucleotide substitutions were analyzed by single strand conformation polymorphism. In contrast to no substitutions in KRAS, nine different substitutions were detected in HRAS. Of the nine, six substitutions were located at intron 1 (HSC2 and HSC3 cells) or intron 2 (HSC3, SCCKN and Ca9.22 cells), and one each of exon 1 (all cells), exon 2 (HOC313, TSU, HSC2 and HSC3 cells) and the 5' upstream region (all cells). Substitutions at exons 1 and 2 did not affect the amino acid sequence; the exon 1 substitution was positioned at the 5' untranslated region, which may be a single nucleotide polymorphism (SNP) sequence because all the cells were isolated from a Japanese population, and the mutations at exon 2 was a silent mutation. A substitution at the 5' upstream region was an SNP. These data demonstrate that SNPs and point mutations observed in HRAS do not change the amino acid sequence, and suggest that the mutations affecting the amino acid sequence may be a rare event in oral carcinomas of the Japanese population.
Asunto(s)
Carcinoma/genética , Genes ras/genética , Neoplasias de la Boca/genética , Mutación/genética , Proteínas Proto-Oncogénicas p21(ras)/genética , Proteínas Proto-Oncogénicas/genética , Proteínas ras/genética , Regiones no Traducidas 5'/genética , Empalme Alternativo/genética , Secuencia de Aminoácidos , Línea Celular Tumoral , Células Cultivadas , Análisis Mutacional de ADN , Exones/genética , Fibroblastos/metabolismo , Variación Genética/genética , Encía/citología , Encía/metabolismo , Humanos , Intrones/genética , Japón , Mutación Puntual/genética , Polimorfismo de Nucleótido Simple/genética , Polimorfismo Conformacional Retorcido-Simple/genética , Eliminación de Secuencia/genéticaRESUMEN
BACKGROUND/AIM: Masticatory muscle tendon-aponeurosis hyperplasia (MMTAH) is a disease associated with a mouth opening limitation. Here, we conducted a bioinformatics analysis to examine gene expression patterns in patients with MMTAH in comparison to those with facial deformity (FD). MATERIALS AND METHODS: Seven MMTAH patients and three FD patients were recruited. We conducted RNA sequencing analysis, quantitative reverse transcription polymerase chain reaction and immunoblot analysis. RESULTS: Of the identified 19,767 mapped read tags that showed clear differential expression, 2,471 genes were significantly up-regulated and 2,849 genes were significantly down-regulated in patients with MMTAH compared to those in patients with FD. Among the up-regulated genes, ten genes were significantly increased. The distribution of up-regulated and down-regulated genes at different ages tended to be similar. Moreover, the protein levels of Ankyrin Repeat Domain 2, Troponin T1 and myosin heavy chain 7, which are associated with slow twitch fibers and mechanical loading, were strongly expressed in patients with MMTAH compared to those in patients with FD. CONCLUSION: The gene expression pattern in MMTAH patients was similar regardless of age. As the transition of fast-to-slow twitch in the skeletal muscle is induced by mechanical loading, and up-regulation of slow twitch molecules was observed in MMTAH patients, mechanical loading is suggested to be implicated in MMTAH.