Detection of novel mitochondrial mutations in cytochrome C oxidase subunit 1 (COX1) in patients with familial adenomatous polyposis (FAP)

Afkhami, E.; Heidari, Mohammad; Khatami, Mehri; Ghadamyari, F.; Dianatpour, S.

doi:10.1007/s12094-019-02208-6

Cited by 5 publications

(5 citation statements)

References 41 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…For example, the G6930A mutation in COX1 coding sequence, resulting in a stop codon that causes the premature termination of translation with a predicted loss of 170 amino acids, can lead to multi-system mitochondrial disorders [30]. Thirty-eight types of mutations in the COX1 gene were found in patients with familial adenomatous polyposis (FAP), and most of them were heteroplasmic changes of missense type (25/38) [31]. A missense T→A mutation at nucleotide position 7671 was identified in the COX2 coding sequence, which affects the assembly or stability of the COX holoenzyme, leading to proximal myopathy and lactic acidosis [32].…”

Section: Discussionmentioning

confidence: 99%

T1121G Point Mutation in the Mitochondrial Gene COX1 Suppresses a Null Mutation in ATP23 Required for the Assembly of Yeast Mitochondrial ATP Synthase

Yang

Zhao

et al. 2022

IJMS

View full text Add to dashboard Cite

Nuclear-encoded Atp23 was previously shown to have dual functions, including processing the yeast Atp6 precursor and assisting the assembly of yeast mitochondrial ATP synthase. However, it remains unknown whether there are genes functionally complementary to ATP23 to rescue atp23 null mutant. In the present paper, we screen and characterize three revertants of atp23 null mutant and reveal a T1121G point mutation in the mitochondrial gene COX1 coding sequence, which leads to Val374Gly mutation in Cox1, the suppressor in the revertants. This was verified further by the partial restoration of mitochondrial ATP synthase assembly in atp23 null mutant transformed with exogenous hybrid COX1 T1121G mutant plasmid. The predicted tertiary structure of the Cox1 p.Val374Gly mutation showed no obvious difference from wild-type Cox1. By further chase labeling with isotope [35S]-methionine, we found that the stability of Atp6 of ATP synthase increased in the revertants compared with the atp23 null mutant. Taking all the data together, we revealed that the T1121G point mutation of mitochondrial gene COX1 could partially restore the unassembly of mitochondrial ATP synthase in atp23 null mutant by increasing the stability of Atp6. Therefore, this study uncovers a gene that is partially functionally complementary to ATP23 to rescue ATP23 deficiency, broadening our understanding of the relationship between yeast the cytochrome c oxidase complex and mitochondrial ATP synthase complex.

show abstract

Section: Discussionmentioning

confidence: 99%

T1121G Point Mutation in the Mitochondrial Gene COX1 Suppresses a Null Mutation in ATP23 Required for the Assembly of Yeast Mitochondrial ATP Synthase

Yang

Zhao

et al. 2022

IJMS

View full text Add to dashboard Cite

show abstract

“…The CCO inhibition observed in this study has been reported to be reversible, and mitochondrial CCOs are more susceptible to stimulation ( 19 , 31 , 32 ). In addition, many studies reported that mitochondrial mutations in CCO cause disease ( 34 , 35 ). Accordingly, we focused on CCOs to evaluate the change in mitochondrial function.…”

Section: Discussionmentioning

confidence: 99%

Function of mitochondrial cytochrome c oxidase is enhanced in human lens epithelial cells at high temperatures

et al. 2022

View full text Add to dashboard Cite

Enhancement of density via human lens epithelium (HLE) cell proliferation is the underlying cause of nuclear cataracts. Moreover, our previous epidemiological study demonstrated that the risk of nuclear cataract development is significantly higher under elevated environmental temperatures compared with under lower temperatures. The present study investigated the relationship between temperature and cell proliferation in terms of mitochondrial function, which is a nuclear cataract-inducing risk factor, using two different HLE cell lines, SRA01/04 and immortalized human lens epithelial cells NY2 (iHLEC-NY2). Cell proliferation was significantly enhanced under the high-temperature condition (37.5˚C) in both cell lines. The cell growth levels of SRA01/04 and iHLEC-NY2 cells cultured at 37.5˚C were 1.20-and 1.16-fold those in the low-temperature cultures (35.0˚C), respectively. Moreover, the levels of cytochrome c oxidase mRNA (mitochondrial genome, cytochrome c oxidase-1-3) and its activity in SRA01/04 and iHLEC-NY2 cells cultured at 37.5˚C were higher compared with those in cells cultured at 35.0˚C. In addition, adenosine-5'-triphosphate (ATP) levels in SRA01/04 and iHLEC-NY2 cells were also significantly higher at 37.5˚C compared with those at 35.0˚C. By contrast, no significant differences in Na + /K + -ATPase or Ca 2+ -ATPase activities were observed between HLE cells cultured at 35.0 and 37.5˚C. These results suggested that expression of the mitochondrial genome was enhanced in high-temperature culture, resulting in a sufficient ATP content and cell proliferation for lens opacity. Therefore, elevated environmental temperatures may increase the risk of nuclear cataracts caused by HLE cell proliferation via mitochondrial activation.

show abstract

“…Although the ambient temperature of our samples ranged from 8 to 30℃ (Table 1), Polyarthra rotifers in eastern North America experience greater interannual changes in temperature. As cytochrome c oxidase subunit I is the terminal enzyme of the mitochondrial respiratory chain (Afkhami et al, 2020), extreme low temperature in winter may lead to differences in mitochondrial functions. Thus mutations may also exist in the coding sequence for COI.…”

Section: Relationship Between Geographic and Genetic Distancementioning

confidence: 99%

Genetic Differentiation and Phylogeography of Rotifer Polyarthra Dolichoptera and P. Vulgaris Complexes Between Southern China and Eastern North America: High Intercontinental Differences

Liang¹,

McManus²,

Wang³

et al. 2021

Preprint

View full text Add to dashboard Cite

Genetic differentiations and phylogeographical patterns of small organisms may be shaped by spatial isolation, environmental gradients and gene flow. However, knowledge about genetic differentiation of rotifers on intercontinental gradient is still limited. Polyarthra dolichoptera and P. vulgaris are cosmopolitan rotifers and tolerant to environmental changes, offering an excellent model to address the research gap. Here, we investigated the populations in Southern China and eastern North America, and evaluated the phylogeographical patterns from their geographical range sizes, geographic-genetic distance relationships and their response to spatial-environmental factors. Using mitichondrial cytochrome c oxidase subunit I gene as the DNA marker, we analyzed a total of 170 individuals. At least 24 putative cryptic species, including 20 of P. dolichoptera and 4 of P. vulgaris were detected based on three delimitation methods. Our results showed that some cryptic species were widely distributed but most of them were limited to single areas. The divergence of P. dolichoptera and P. vulgaris complexes indicated that gene flow between continents was limited while that within each continent was stronger. Furthermore, on the intercontinental scale spatial distance had a stronger influence than physicochemical variables on the genetic differentiations of P. dolichoptera and P. vulgaris complexes. However, the relationship between genetic distance and geographic distance was not continuously linear and the P. dolichoptera data best fitted the power-law model. This might be due to the effects of habitat heterogeneity, long-distance colonization and oceanographic barriers. Outliers above the correlation line between geographic distance and genetic distance suggest a significant dispersal barrier on large geographic scales studies.

show abstract

Detection of novel mitochondrial mutations in cytochrome C oxidase subunit 1 (COX1) in patients with familial adenomatous polyposis (FAP)

Cited by 5 publications

References 41 publications

T1121G Point Mutation in the Mitochondrial Gene COX1 Suppresses a Null Mutation in ATP23 Required for the Assembly of Yeast Mitochondrial ATP Synthase

T1121G Point Mutation in the Mitochondrial Gene COX1 Suppresses a Null Mutation in ATP23 Required for the Assembly of Yeast Mitochondrial ATP Synthase

Function of mitochondrial cytochrome c oxidase is enhanced in human lens epithelial cells at high temperatures

Genetic Differentiation and Phylogeography of Rotifer Polyarthra Dolichoptera and P. Vulgaris Complexes Between Southern China and Eastern North America: High Intercontinental Differences

Contact Info

Product

Resources

About