The use of a MITO-Porter to deliver exogenous therapeutic RNA to a mitochondrial disease’s cell with a A1555G mutation in the mitochondrial 12S rRNA gene results in an increase in mitochondrial respiratory activity

Mitochondrion ◽  
2020 ◽  
Vol 55 ◽  
pp. 134-144
Author(s):  
Yuma Yamada ◽  
Minako Maruyama ◽  
Tomoko Kita ◽  
Shin-ichi Usami ◽  
Shin-ichiro Kitajiri ◽  
...  
2002 ◽  
Vol 22 (2) ◽  
pp. 174-183 ◽  
Author(s):  
Antoinette C. van der Kuyl ◽  
Donato L. Ph. Ballasina ◽  
John T. Dekker ◽  
Jolanda Maas ◽  
Ronald E. Willemsen ◽  
...  

2021 ◽  
Vol 322 ◽  
pp. 01028
Author(s):  
Nao Fukunaga ◽  
Moe Shimizu ◽  
Shinnosuke Teruya ◽  
Nazifa Naziha Razali ◽  
Satoko Nakashima ◽  
...  

DNA barcoding is an effective and powerful tool for taxonomic identification and thus very useful for biodiversity monitoring. This study investigated the usefulness of the mitochondrial 12S-rRNA gene for the DNA barcoding of shelled marine gastropods. To do so, we determined partial 12S-rRNA sequences of 75 vouchered museum specimens from 69 species of shelled gastropods from Japan. The specimens have been identified morphologically, and natural history data catalog. Sequence analyses through BLAST searches, maximum likelihood phylogenetic analysis, and species delimitation analysis suggested that the 12S-rRNA gene is helpful for barcoding shelled marine gastropods. They thus could be helpful to complement barcoding studies using other markers such as COI. The analyses successfully confirmed all samples’ identity at higher taxonomy (subfamily and above), but much less so at the species level. Our result thus also underlines the lingering problem of DNA barcoding: The lack of comprehensive reference databases of sequences. However, since we provided sequences of properly curated, vouchered museum specimens in this study, our result reported here has thus also helped to give taxonomically reliable reference sequences for biodiversity monitoring and identifications of shelled gastropods which include many important fisheries species.


2010 ◽  
Vol 30 (6) ◽  
pp. 405-411 ◽  
Author(s):  
Emna Mkaouar-Rebai ◽  
Nourhene Fendri-Kriaa ◽  
Nacim Louhichi ◽  
Abdelaziz Tlili ◽  
Chahnez Triki ◽  
...  

Sensorineural hearing loss has been described in association with different mitochondrial multisystemic syndromes, often characterized by an important neuromuscular involvement. Until now, mutations in mitochondrial DNA, especially in the 12S rRNA, the tRNASer(UCN) and the tRNALeu(UUR) genes, were implicated in syndromic or non-syndromic hearing loss either as a primary cause or as predisposing factors. In the present study, we performed a whole mitochondrial genome screening in two unrelated Tunisian families with inherited hearing loss. Results showed the presence of a novel mutation in the mitochondrial 12S rRNA gene in the two probands of these two families who belong to two different haplogroups: L3 and H6a1. The m.735A>G mutation affects a conserved nucleotide of the mitochondrial 12S rRNA gene in primates and other species and had a conservation index of 78.5% (11/14). We also detected known polymorphisms and sic novel mitochondrial variants. The present study confirmed that the mitochondrial 12S rRNA gene is a hot spot for mutations associated with hearing impairment.


Sign in / Sign up

Export Citation Format

Share Document