Polymorphisms in mitochondrial genes encoding complex I subunits are maternal factors of voluntary alcohol consumption in the rat

2009 ◽  
Vol 19 (7) ◽  
pp. 528-537 ◽  
Author(s):  
Amalia Sapag ◽  
Ginez González-Martínez ◽  
Lorena Lobos-González ◽  
Gonzalo Encina ◽  
Lutske Tampier ◽  
...  
2001 ◽  
Vol 29 (4) ◽  
pp. 442-446 ◽  
Author(s):  
C. Remacle ◽  
F. Duby ◽  
P. Cardol ◽  
R. F. Matagne

Chlamydomonas reinhardtii is now becoming a useful model for the study of mitochondrial genetics in a photosynthetic organism. The small (15.8 kb) mitochondrial genome C. reinhardtii has been sequenced completely and all the genes have been identified. Several mutants inactivated in mitochondrial genes encoding components of the respiratory complexes I, III and IV have been characterized at the molecular level. Assembly of complex I in several mutant strains and mapping of mitochondrial mutations by recombinational analysis are also described.


2016 ◽  
Vol 19 (2) ◽  
pp. 61-70 ◽  
Author(s):  
T-T Dong ◽  
L-J Wang ◽  
L-Z Liu ◽  
S-N Ma

AbstractIn order to investigate the association between polymorphisms in genes encoding metabolizing enzymes (CYP1A1-MspI, EC-SOD (extracellular superoxide dismutase), GSTT1, GSTM1, ALDH2), cigarette and alcohol consumption, and the risk of oral squamous cell carcinoma, we conducted a prospective case-control study comprised of 750 individuals with oral squamous cell carcinoma (OSCC) and 750 healthy individuals. Data about smoking and drinking habits were collected along with other demographic and clinical information. Peripheral blood samples were collected for DNA extraction, and polymerase chain reaction (PCR) and PCR-RFLP (restriction fragment length polymorphism) were used to determine genotypes of CYP1A1, EC-SOD, GSTT1, GSTM1, ALDH2. The results showed that smoking and alcohol consumption were significantly more common among patients than controls (p <0.05). There were significant differences in the genotype distribution for each locus between groups, with the CYP1A1 (m2/ m2), EC-SOD (C/G), GSTT1 [–], GSTM1 [–] and ALDH2 (non G/G) genotypes being more common among patients (p <0.05). Furthermore, the majority of patients had at least two or more variant genotypes, while controls had one or no variant genotype (p <0.05). Finally, multiple variant genotypes combined with smoking, drinking, or both smoking and drinking significantly increased the risk of OSCC, with greater increase for heavier smoking/drinking. In brief, genetic polymorphism of CYP1A1, EC-SOD, GSTT1, GSTM1, and ALDH2 and smoking and drinking history are closely associated with susceptibility to OSCC.


2021 ◽  
Vol 10 (19) ◽  
pp. 416-421
Author(s):  
Ruchi Upadhyay ◽  
Ratika Srivastava

The investigation of mitochondrial DNA (Mt-DNA) alterations could impart light on the involvement of mitochondria in the pathophysiology of Systemic Lupus Erythematosus. The purpose of this study is to examine the peripheral blood mitochondrial DNA copy number variation in Lupus Nephritis patients and also to find out it’s correlation with amount of protein present in urine. The significant correlation could aid in the inspection of mitochondrial involvement, particularly in Lupus Nephritis. Two mitochondrial genes encoding MT-CYT and MT-TL1 were measured quantitatively by qRT-PCR in whole blood of 17 SLE patients and 15 healthy subjects with similar gender (female: male ratio) and age group. The amount of mitochondrial genes MT-CYT and MT-TL1 was 1.69 and 1.26 fold higher respectively in patients. The significantly higher amount of protein detected in lupus nephritis patients (129.4±116.4 mg/dl) in comparison to normal subjects (25.3 ±10.7 mg/dl). No significant correlation was established between Mt-DNA quantity and proteinuria. Alteration in mitochondrial genes reflects the possibilities of altered mitophagy or mitochondrial biosynthesis during SLE. These findings are required to be further validated by studying mitophagy and biogenesis during SLE in details.


2021 ◽  
Author(s):  
Athanasios Zervas ◽  
Mizuki Takenaka ◽  
James H. Leebens-Mack ◽  
Ole Seberg ◽  
Gitte Petersen

The profound absence of mitochondrial complex I (NADH-ubiquinone oxidoreductase) genes from the mitogenome of Viscum spp. and the rapid rates of molecular evolution characterizing most of their remaining mitochondrial genes raise questions regarding the possible transfer of the entire nad gene set to the nucleus, as well as for the functionality of the remaining highly divergent genes. Using whole transcriptome sequencing in three species of Viscaceae: V. album, V. crassulae, and Phoradendron leucarpum we were able to confirm transcription of all previously identified genes. However, we did not detect any nad gene transcripts, thus, providing further evidence of the complete loss of complex I in Viscaceae. The results from transcriptome sequencing also revealed that levels and patterns of RNA editing were not different from those found in autotrophic plant species. Hence, RNA editing is not a means of restoring conserved domains or folding sites of the proteins coded for by the divergent mitochondrial genes. Since we were able to recover mitochondrial genes transcripts following a sequencing protocol targeted towards polyadenylated mRNA molecules, it is suggested that mitochondrial genes undergo post-transcriptional polyadenylation in Viscaceae.


Genetics ◽  
1995 ◽  
Vol 139 (3) ◽  
pp. 1211-1221 ◽  
Author(s):  
M Duarte ◽  
R Sousa ◽  
A Videira

Abstract We have isolated and characterized the nuclear genes encoding the 12.3-kD subunit of the membrane arm and the 29.9-kD subunit of the peripheral arm of complex I from Neurospora crassa. The former gene was known to be located in linkage group I and the latter is now assigned to linkage group IV of the fungal genome. The genes were separately transformed into different N. crassa strains and transformants with duplicated DNA sequences were isolated. Selected transformants were then mated with other strains to generate repeat-induced point mutations in both copies of the genes present in the nucleus of the parental transformant. From the progeny of the crosses, we were then able to recover two individual mutants lacking the 12.3- and 29.9-kD proteins in their mitochondria, mutants nuo12.3 and nuo29.9, respectively. Several other subunits of complex I are present in the mutant organelles, although with altered stoichiometries as compared with those in the wild-type strain. Based on the analysis of Triton-solubilized mitochondrial complexes in sucrose gradients, neither mutant is able to fully assemble complex I. Our results indicate that mutant nuo12.3 separately assembles the peripheral arm and most of the membrane arm of the enzyme. Mutant nuo29.9 seems to accumulate the membrane arm of complex I and being devoid of the peripheral part. This implicates the 29.9-kD protein in an early step of complex I assembly.


2013 ◽  
Vol 333 ◽  
pp. e355
Author(s):  
R. Gaspar ◽  
I. Santana ◽  
M.J. Santos ◽  
A.S. Fernandes ◽  
D. Duro ◽  
...  

2005 ◽  
Vol 83 (10) ◽  
pp. 786-794 ◽  
Author(s):  
Reetta Hinttala ◽  
Johanna Uusimaa ◽  
Anne M. Remes ◽  
Heikki Rantala ◽  
Ilmo E. Hassinen ◽  
...  

Neoplasma ◽  
2016 ◽  
Vol 63 (04) ◽  
pp. 548-558 ◽  
Author(s):  
L. D. LI ◽  
H. F. SUN ◽  
Y. BAI ◽  
S. P. GAO ◽  
H. L. JIANG ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document