ACTN4 Gene Mutations and Single Nucleotide Polymorphisms in Idiopathic Focal Segmental Glomerulosclerosis

2009 ◽  
Vol 111 (2) ◽  
pp. c87-c94 ◽  
Author(s):  
Shengchuan Dai ◽  
Zhaohui Wang ◽  
Xiaoxia Pan ◽  
Xiaonong Chen ◽  
Weiming Wang ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Focal Segmental Glomerulosclerosis ◽  
Gene Mutations ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Segmental Glomerulosclerosis

Statin-induced adverse effects – facts and genes

2013 ◽  
Vol 154 (3) ◽  
pp. 83-92
Author(s):  
Mariann Harangi ◽  
Noémi Zsíros ◽  
Lilla Juhász ◽  
György Paragh
Keyword(s):  
Risk Factors ◽  
Single Nucleotide Polymorphisms ◽  
Adverse Effects ◽  
Adverse Events ◽  
Statin Therapy ◽  
Significant Proportion ◽  
Gene Mutations ◽  
Nucleotide Polymorphisms ◽  
Serious Adverse Events ◽  
Single Nucleotide

Statin therapy is considered to be safe and rarely associated with serious adverse events. However, a significant proportion of patients on statin therapy show some degree of intolerance which can lead to decreased adherence to statin therapy. The authors summarize the symptoms, signs and frequencies of the most common statin-induced adverse effects and their most important risk factors including some single nucleotide polymorphisms and gene mutations. Also, they review the available approaches to detect and manage the statin-intolerant patients. Orv. Hetil., 2013, 154, 83–92.

scholarly journals Focal segmental glomerulosclerosis is associated with a PDSS2 haplotype and, independently, with a decreased content of coenzyme Q10

2013 ◽  
Vol 305 (8) ◽  
pp. F1228-F1238 ◽  
Author(s):  
David L. Gasser ◽  
Cheryl A. Winkler ◽  
Min Peng ◽  
Ping An ◽  
Louise M. McKenzie ◽  
...  
Keyword(s):  
Focal Segmental Glomerulosclerosis ◽  
Cell Lines ◽  
Coenzyme Q ◽  
Lymphoblastoid Cell Lines ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Collapsing Glomerulopathy ◽  
Segmental Glomerulosclerosis ◽  
Increased Risk ◽  
Common Causes

Focal segmental glomerulosclerosis (FSGS) and collapsing glomerulopathy are common causes of nephrotic syndrome. Variants in >20 genes, including genes critical for mitochondrial function, have been associated with these podocyte diseases. One such gene, PDSS2, is required for synthesis of the decaprenyl tail of coenzyme Q10 (Q10) in humans. The mouse gene Pdss2 is mutated in the kd/kd mouse model of collapsing glomerulopathy. We examined the hypothesis that human PDSS2 polymorphisms are associated with podocyte diseases. We genotyped 377 patients with primary FSGS or collapsing glomerulopathy, together with 900 controls, for 9 single-nucleotide polymorphisms in the PDSS2 gene in a case-control study. Subjects included 247 African American (AA) and 130 European American (EA) patients and 641 AA and 259 EA controls. Among EAs, a pair of proxy SNPs was significantly associated with podocyte disease, and patients homozygous for one PDSS2 haplotype had a strongly increased risk for podocyte disease. By contrast, the distribution of PDSS2 genotypes and haplotypes was similar in AA patients and controls. Thus a PDSS2 haplotype, which has a frequency of 13% in the EA control population and a homozygote frequency of 1.2%, is associated with a significantly increased risk for FSGS and collapsing glomerulopathy in EAs. Lymphoblastoid cell lines from FSGS patients had significantly less Q10 than cell lines from controls; contrary to expectation, this finding was independent of PDSS2 haplotype. These results suggest that FSGS patients have Q10 deficiency and that this deficiency is manifested in patient-derived lymphoblastoid cell lines.

scholarly journals ParkinExon Rearrangements and Sequence Variants inLRRK2Mutations Carriers: Analysis on a Possible Modifier Effect onLRRK2Penetrance

2010 ◽  
Vol 2010 ◽  
pp. 1-5 ◽  
Author(s):  
Paolo Solla ◽  
Antonino Cannas ◽  
Gianluca Floris ◽  
Maria Rita Murru ◽  
Daniela Corongiu ◽  
...  
Keyword(s):  
Environmental Factors ◽  
Single Nucleotide Polymorphisms ◽  
Family Members ◽  
Gene Mutations ◽  
Sequence Variants ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Mutation Carriers ◽  
Common Causes ◽  
Modifier Effect

Mutations inLRRK2represent the most common causes of Parkinson's disease (PD) identified to date, but their penetrance is incomplete and probably due to the presence of other genetic or environmental factors required for development of the disease. We analyzed the presence ofparkinsequence variants (mutations or polymorphisms) and exon rearrangements inLRRK2mutations carriers (both PD patients and unaffected relatives) in order to detect a possible modifier effect on penetrance. Eight families with nine PD patients with heterozygousLRRK2mutations (identified within 380 Sardinian PD patients screened for the presence of the five most commonLRRK2mutations) and sixteen additional relatives were genetically investigated for the presence ofLRRK2andparkinmutations. No evidence was found for the presence of pathologicalparkinmutations or exon rearrangements in patients or not affected family members. Three single-nucleotide polymorphisms (SNPs) were identified both in patients and unaffected relatives but did not significantly differ between the two groups. These data provide no support to the hypothesis whereby suchparkingene mutations may be commonly implicated in possible effect on penetrance inLRRK2mutation carriers.

scholarly journals Impacts of Nonsynonymous Single Nucleotide Polymorphisms of Adiponectin Receptor 1 Gene on Corresponding Protein Stability: A Computational Approach

2016 ◽  
Vol 2016 ◽  
pp. 1-12 ◽  
Author(s):  
Md. Abu Saleh ◽  
Md. Solayman ◽  
Sudip Paul ◽  
Moumoni Saha ◽  
Md. Ibrahim Khalil ◽  
...  
Keyword(s):  
Free Energy ◽  
Single Nucleotide Polymorphisms ◽  
Metabolic Diseases ◽  
Gene Mutations ◽  
Adiponectin Receptor ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Adiponectin Receptor 1 ◽  
Structural Impacts ◽  
Dbsnp Database

Despite the reported association of adiponectin receptor 1 (ADIPOR1)gene mutations with vulnerability to several human metabolic diseases, there is lack of computational analysis on the functional and structural impacts of single nucleotide polymorphisms (SNPs) of the humanADIPOR1at protein level. Therefore, sequence- and structure-based computational tools were employed in this study to functionally and structurally characterize the coding nsSNPs ofADIPOR1gene listed in the dbSNP database. Ourin silicoanalysis by SIFT, nsSNPAnalyzer, PolyPhen-2, Fathmm, I-Mutant 2.0, SNPs&GO, PhD-SNP, PANTHER, and SNPeffect tools identified the nsSNPs with distorting functional impacts, namely, rs765425383 (A348G), rs752071352 (H341Y), rs759555652 (R324L), rs200326086 (L224F), and rs766267373 (L143P) from 74 nsSNPs ofADIPOR1gene. Finally the aforementioned five deleterious nsSNPs were introduced using Swiss-PDB Viewer package within the X-ray crystal structure of ADIPOR1 protein, and changes in free energy for these mutations were computed. Although increased free energy was observed for all the mutants, the nsSNP H341Y caused the highest energy increase amongst all. RMSD and TM scores predicted that mutants were structurally similar to wild type protein. Our analyses suggested that the aforementioned variants especially H341Y could directly or indirectly destabilize the amino acid interactions and hydrogen bonding networks of ADIPOR1.

Development of a simple method for the determination of single nucleotide polymorphisms

2010 ◽  
Vol 34 (8) ◽  
pp. S75-S75
Author(s):  
Weifeng Zhu ◽  
Zhuoqi Liu ◽  
Daya Luo ◽  
Xinyao Wu ◽  
Fusheng Wan
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Simple Method ◽  
Single Nucleotide
Sign in / Sign up

Export Citation Format

Share Document