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Clinical and molecular features of a Han Chinese family with maternally transmitted hypertension.

ABSTRACT: Mutations in mitochondrial DNA (mtDNA) were found to be associated with hypertension. We reported here clinical, genetic and molecular characterization of a Han Chinese family with maternally inherited hypertension. Most strikingly, this family exhibited a high penetrance of hypertension. Sequence analysis of the entire mitochondrial genome showed the presence of the well-known T4363C mutation in tRNAGln, as well as the ND1 T3394C mutation, and a set of polymorphisms belonging to human mitochondrial haplogroup M7b. Of these, the T4363C mutation was localized at the highly conserved nucleotide in the anticodon stem of tRNAGln (position 38), may result the failure in tRNA metabolism. Moreover, the homoplasmic ND1 T3394C mutation, which had been reported to be associated with Leber's hereditary optic neuropathy (LHON), was regarded as a pathogenic mutation associated with mitochondrial diseases. Thus, the combination of ND1 T3394C and tRNAGln T4363C mutations may contribute to the high penetrance and expressivity of hypertension in this Chinese family.

SUBMITTER: Shao J

PROVIDER: S-EPMC6965253 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Clinical and molecular features of a Han Chinese family with maternally transmitted hypertension.

Shao Jianzhi J Chen Changgong C Lin Wenhui W Dong Zhibing Z Gao Ranran R Chen Caiming C Lin Bin B Chen Junzheng J Xu Jinzhong J

International journal of clinical and experimental pathology 20170701 7

Mutations in mitochondrial DNA (mtDNA) were found to be associated with hypertension. We reported here clinical, genetic and molecular characterization of a Han Chinese family with maternally inherited hypertension. Most strikingly, this family exhibited a high penetrance of hypertension. Sequence analysis of the entire mitochondrial genome showed the presence of the well-known T4363C mutation in tRNA<sup>Gln</sup>, as well as the <i>ND1</i> T3394C mutation, and a set of polymorphisms belonging ...[more]

PMID: 31966580

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Project description:BACKGROUND: Breast cancer is a heterogeneous disease in terms of transcriptional aberrations; moreover, microarray gene expression profiles had defined 5 molecular subtypes based on certain intrinsic genes. This study aimed to evaluate the prediction consistency of breast cancer molecular subtypes from 3 distinct intrinsic gene sets (Sørlie 500, Hu 306 and PAM50) as well as clinical presentations of each molecualr subtype in Han Chinese population. METHODS: In all, 169 breast cancer samples (44 from Taiwan and 125 from China) of Han Chinese population were gathered, and the gene expression features corresponding to 3 distinct intrinsic gene sets (Sørlie 500, Hu 306 and PAM50) were retrieved for molecular subtype prediction. RESULTS: For Sørlie 500 and Hu 306 intrinsic gene set, mean-centring of genes and distance-weighted discrimination (DWD) remarkably reduced the number of unclassified cases. Regarding pairwise agreement, the highest predictive consistency was found between Hu 306 and PAM50. In all, 150 and 126 samples were assigned into identical subtypes by both Hu 306 and PAM50 genes, under mean-centring and DWD. Luminal B tended to show a higher nuclear grade and have more HER2 over-expression status than luminal A did. No basal-like breast tumours were ER positive, and most HER2-enriched breast tumours showed HER2 over-expression, whereas, only two-thirds of ER negativity/HER2 over-expression tumros were predicted as HER2-enriched molecular subtype. For 44 Taiwanese breast cancers with survival data, a better prognosis of luminal A than luminal B subtype in ER-postive breast cancers and a better prognosis of basal-like than HER2-enriched subtype in ER-negative breast cancers was observed. CONCLUSIONS: We suggest that the intrinsic signature Hu 306 or PAM50 be used for breast cancers in the Han Chinese population during molecular subtyping. For the prognostic value and decision making based on intrinsic subtypes, further prospective study with longer survival data is needed.

Dataset Information

Clinical and molecular features of a Han Chinese family with maternally transmitted hypertension.

Publications

Clinical and molecular features of a Han Chinese family with maternally transmitted hypertension.

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