Rescue of complex IV biogenesis by the cytosol-synthesized subunit II (Cox2) precursor carrying the point mutation W56R
Valentín Cruz-TorresMiriam Vázquez‐AcevedoRodolfo García-VillegasXóchitl Pérez-MartínezGuillermo Mendoza‐HernándezDiego González‐Halphen
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Objective To analyze p 53 gene exon 5 mutations in esophageal cancer (EC) specimens in Xi'an city and Linzhou city.Methods Polymerase chain reaction (PCR) direct sequencing technique was used to detect the alteration of p 53 gene exon 5 for EC specimens from Xi'an city and Linzhou city.Results Mutation rate of p 53 gene exon 5 mutation in Xi'an and Linzhou EC specimens were 14 3%(6/42) and 18 6%(9/43) respectively, which were not significantly different ( P 0 05).Point mutation was the main mutation type.In Xi'an EC specimens, there were six mutation sites including 4-point mutation and 2 base deletions.In Linzhou EC specimens,there were 10 mutation sites,including 9-point mutation and 1 insert mutation.In Xi'an p 53 gene exon 5 mutations were in 126 to 128 bases (4/6),while in Linzhou EC specimens only two had mutations in thiese sites.But these distributions of mutation sites were not significantly different ( P 0 05).Conclusion The p 53 gene exon 5 mutation sites in Xi'an were relatively concentrated;in Linzhou were relatively scattered in different codes,which might be owing to the great variety of risk factors in this district.
Mutation Testing
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The mutation analysis of alpha-galactosidase A gene was carried out in two families with Fabry disease described by us earlier. In the family P. a new point mutation E341K (a G to A transition at position 10,999 of the gene) was identified. The mutation causes a Glu341Lys substitution in alpha-galactosidase A molecule. Another point mutation was identified in a patient from family N. who had unusual unusually high residual activity of alpha-galactosidase A. The mutation was identified as R112C (a C to T transition at position 5233 of alpha-galactosidase A gene) and it caused the Arg112Cys substitution in the enzyme molecule. This mutation was earlier described in Japanese patient with showed a complete loss of enzyme activity. However, in this case the mutation was combined with another mutation Glu66Gln. The relationship between genetic heterogeneity and clinical manifestation of Fabry disease is discussed.
Alpha (finance)
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Objective: To study the common mutation types and forms of Wilson's Diseases(WD) ATP7B gene.Methods: Peripheral blood DNA were obtained from 30 patients and exons 5,8,12 of ATP7B gene were amplified by PCR and DNA sequencing was applied.Results: The 6 types of mutations found in 30 patients were all point mutation.Among them,5 were identified in exon 8,accounting for 40.00%;1 in exon 12,accounting for 23.33%.No mutation was observed in exon 5.Conclusions: Exons 8 and 12 of ATP7B gene may be the hot points of WD genetic mutation in the population,and Arg778Leu and Arg952Lys may be the mutation point of high frequency.Since no mutation was observed in exon 5,priority should be given to exons 8 and 12 in genetic mutation detection for WD patients.
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We report the clinical, histochemical, and molecular genetic findings in a patient with progressive mitochondrial cytopathy due to the m.8313G>A point mutation in the mitochondrial tRNA(Lys) (MTTK) gene. The clinical features in this case are severe, including short stature, myopathy, peripheral neuropathy, and osteoporosis, while extensive analysis of maternal relatives indicate that the mutation has arisen de novo and was not maternally inherited. This report of a second case, together with single muscle fiber mutation analysis that shows clear segregation of mutation load with cytochrome c oxidase deficiency, confirms that the mutation is pathologic.
Mitochondrial disease
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Iron–sulfur cluster
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Sickle-cell anemia is caused mutation at molecular point-6 of hemoglobin beta polypeptide chain that would be bisectional significant site shows a deleterious mutation. P53 is a tumor suppresor protein having a curious interaction between molecular point and amino acid composition and is inactivated by several biophysical mutations at its core domain with fall of thermodynamic stability tends to disorder.
Genetic disorder
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Objective:The major aim of this study is to analyze the point mutation at the codon 54th of MBL in healthy North Huis,and to measure the plasma levels of MBL, and to analyze the association between the mutation frequency and plasma MBL concentrations.Methods:PCR-RFLP was used to detect MBL point mutation.MBL plasma concentrations were measured using MBL Oliger ELISA kit.Results:Frequency of point mutation at the codon 54th of MBL in healthy Huis was 0.15. The plasma MBL concentration was (3.40±2.55)mg/L. There was negative correlation between MBL concentrations and gene mutation frequency in huis(r=-0.67).Conclusion:The relationship between frequency of mutation at codon 54 of MBL gene and the plasma MBL concentrations in healthy Huis is negative correlation.
Mutation frequency
Positive correlation
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Nonsynonymous substitution
Pseudogene
Synonymous substitution
Silent mutation
Nonsense mutation
Neutral mutation
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ABSTRACT The biogenesis of iron-sulfur (Fe/S) proteins entails the synthesis and trafficking of Fe/S clusters, followed by their insertion into target apoproteins. In eukaryotes, the multiple steps of biogenesis are accomplished by complex protein machineries in both mitochondria (ISC) and cytosol (CIA). The underlying biochemical pathways have been elucidated over the past decades, yet the mechanisms of cytosolic [2Fe-2S] protein assembly have remained ill-defined. Similarly, the precise site of glutathione (GSH) requirement in cytosolic and nuclear Fe/S protein biogenesis is unclear, as is the molecular role of the GSH-dependent cytosolic monothiol glutaredoxins (cGrxs). Here, we investigated these questions in human and yeast cells by various in vivo approaches. [2Fe-2S] cluster assembly of cytosolic target apoproteins required the mitochondrial ISC machinery, the ABC transporter Atm1/ABCB7 and GSH, yet occurred independently of both the CIA system and cGrxs. This mechanism was strikingly different from the ISC-, Atm1/ABCB7-, GSH-, and CIA-dependent assembly of cytosolic-nuclear [4Fe-4S] proteins. One notable exception to this newly defined cytosolic [2Fe-2S] protein maturation pathway was the yeast protein Apd1 which used the CIA system via binding to the CIA targeting complex through its C-terminal tryptophan. cGrxs, although attributed as [2Fe-2S] cluster chaperones or trafficking proteins, were not essential in vivo for deliver ing [2Fe-2S] clusters to either CIA components or apoproteins. Finally, GSH function was assigned to Atm1-dependent export, i.e. a step before GSH-dependent cGrxs function. Our findings extend the general model of eukaryotic Fe/S protein biogenesis by adding the molecular requirements for cytosolic [2Fe-2S] protein maturation.
Glutaredoxin
Iron–sulfur cluster
Chaperone (clinical)
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배경: 폐암에서의 EGFR 돌연변이는 폐암을 유발시키는 돌연변이(driver mutation)로 알려져 있다. 대부분의 경우 선암(adenocarcinoma)에서 발견되고 EGFR kinase domain 부분인 exon 18~21 에 변이가 있고 90% 정도가 exon 19 deletion 이나 exon 21 L858R point mutation으로 발현 되는것으로 확인되었다. 하지만 두가지 변이가 동시에 발견된 증례는 아직까지 보고되지 않았다. 소개할 환자는 비소세포폐암 선암종 진단 후 시행한 EGFR mutation 검사상 19 deletion과 21 L858R point mutation 이 동시에 발견되어 이에 대해 보고하는 바이다. 증례: 48세 남자환자로 2015년도 9월 종합검진으로 시행한 가슴전산화단층촬영 상 우상엽 3cm 종괴 관찰되어 추가 검사 진행 위해 입원하였다. 입원 후 시행한 세침조직검사 결과 비소세포폐암 선암종으로 결과 보고되었고 이후 병기 설정 위한 추가 검사 시행하여 뇌, 흉막, 양쪽 폐 침범 소견 관찰되었고 병기4로 진단하였다. 뇌병변에 대해 2015년 10월 13일에서 15일까지 정위적방사선분할치료 시행 하였고 2015년 10월 12일 부터 아파티닙 30mg(지오트립) 경구항암제 사용중이고 이후 시행한 가슴전산화단층촬영상 부분 관해 소견 보이며 현재까지 외래 경과 관찰중이다. 고찰: EGFR mutation 은 TKI 항암제를 사용하는데 지표로 활용되는 염색체 이상 소견으로 exon mutation 이 동시에 두개를 보이는 경우는 현재까지 보고 되지 않았다. Exon 19 deletion 과 exon 21 L858R point mutation 두가지 유전자 변형이 동시에 관찰된 특이 증례에 대해 보고하는 바이다.
Exon trapping
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