scholarly journals Heterogenous Point Mutations in the Mitochondrial tRNA Ser(UCN) Precursor Coexisting with the A1555G Mutation in Deaf Students from Mongolia

1999 ◽  
Vol 65 (6) ◽  
pp. 1803-1806 ◽  
Author(s):  
Arti Pandya ◽  
Xia-Juan Xia ◽  
Raadnabazar Erdenetungalag ◽  
Michael Amendola ◽  
Barbara Landa ◽  
...  
Keyword(s):  
Point Mutations ◽  
Mitochondrial Trna ◽  
Deaf Students ◽  
A1555g Mutation

Two novel point mutations of mitochondrial tRNA genes in histologically confirmed Parkinson disease

Neurogenetics ◽  
1999 ◽  
Vol 2 (2) ◽  
pp. 121-127 ◽  
Author(s):  
Eva M. Grasbon-Frodl ◽  
Siegfried Kösel ◽  
Mathias Sprinzl ◽  
Ulrich von Eitzen ◽  
Parviz Mehraein ◽  
...  
Keyword(s):  
Parkinson Disease ◽  
Point Mutations ◽  
Trna Genes ◽  
Mitochondrial Trna ◽  
Mitochondrial Trna Genes

scholarly journals Molecular Investigations on tRNAs Involved in Human Mitochondrial Disorders

2002 ◽  
Vol 22 (1) ◽  
pp. 81-98 ◽  
Author(s):  
Catherine Florentz
Keyword(s):  
Mitochondrial Protein ◽  
Point Mutations ◽  
Experimental Investigations ◽  
Trna Genes ◽  
Mitochondrial Protein Synthesis ◽  
Theoretical Level ◽  
Mitochondrial Trna ◽  
New Approach ◽  
Mitochondrial Trna Genes ◽  
Initial Results

Over the last decade, human neurodegenerative disorders which correlate with point mutations in mitochondrial tRNA genes became more and more numerous. Both the number of mutations (more than 70) and the variety of phenotypes (cardiopathies, myopathies, encephalopathies as well as diabetes, deafness or others) render the understanding of the genotype/phenotype relationships very complex. Here we first summarize the efforts undertaken to decipher the initial impact of various mutations on the structure/function relationships of tRNAs. This includes several lines of research, namely (i) investigation of human mitochrondrial tRNA structures, (ii) comparison of disease-related and polymorphic mutations at a theoretical level, and (iii) experimental investigations of affected tRNAs in the frame of mitochondrial protein synthesis. A new approach aimed at searching for long-range effects of mitochondrial tRNA mutations on a broader global mitochondrial level will also be presented. Initial results obtained by comparative mitochondrial proteomics turn out to be very promising for deciphering unexpected molecular partners involved in the pathological status of the mitochondria.

M.P.1.11 Homoplasmic point mutations in mitochondrial tRNA genes in patients with encephalomyopathy

2007 ◽  
Vol 17 (9-10) ◽  
pp. 770-771
Author(s):  
E. Borgione ◽  
C. Scuderi ◽  
F. Castello ◽  
M. Elia ◽  
G. Vitello ◽  
...  
Keyword(s):  
Point Mutations ◽  
Trna Genes ◽  
Mitochondrial Trna ◽  
Mitochondrial Trna Genes

scholarly journals Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations

2015 ◽  
Vol 25 (5) ◽  
pp. 903-915 ◽  
Author(s):  
Elena Perli ◽  
Annarita Fiorillo ◽  
Carla Giordano ◽  
Annalinda Pisano ◽  
Arianna Montanari ◽  
...  
Keyword(s):  
Point Mutations ◽  
Trna Synthetase ◽  
Short Peptides ◽  
Mitochondrial Trna

scholarly journals Mitochondrial tRNA-Derived Fragments and Their Contribution to Gene Expression Regulation

2021 ◽  
Vol 12 ◽  
Author(s):  
Athanasios-Nasir Shaukat ◽  
Eleni G. Kaliatsi ◽  
Vassiliki Stamatopoulou ◽  
Constantinos Stathopoulos
Keyword(s):  
Gene Expression ◽  
Gene Expression Regulation ◽  
Current Knowledge ◽  
Point Mutations ◽  
Mitochondrial Diseases ◽  
Expression Regulation ◽  
Dna Integrity ◽  
Mitochondrial Trna ◽  
Stress Signals ◽  
External Stimuli

Mutations in human mitochondrial tRNAs (mt-tRNAs) are responsible for several and sometimes severe clinical phenotypes, classified among mitochondrial diseases. In addition, post-transcriptional modifications of mt-tRNAs in correlation with several stress signals can affect their stability similarly to what has been described for their nuclear-encoded counterparts. Many of the perturbations related to either point mutations or aberrant modifications of mt-tRNAs can lead to specific cleavage and the production of mitochondrial tRNA-derived fragments (mt-tRFs). Although mt-tRFs have been detected in several studies, the exact biogenesis steps and biological role remain, to a great extent, unexplored. Several mt-tRFs are produced because of the excessive oxidative stress which predominantly affects mitochondrial DNA integrity. In addition, mt-tRFs have been detected in various diseases with possible detrimental consequences, but also their production may represent a response mechanism to external stimuli, including infections from pathogens. Finally, specific point mutations on mt-tRNAs have been reported to impact the pool of the produced mt-tRFs and there is growing evidence suggesting that mt-tRFs can be exported and act in the cytoplasm. In this review, we summarize current knowledge on mitochondrial tRNA-deriving fragments and their possible contribution to gene expression regulation.

Exploring the Potential Impact of Sentence-Level Comprehension and Sentence-Level Fluency on Deaf Students' Passage Comprehension

2020 ◽  
Vol 63 (7) ◽  
pp. 2281-2292
Author(s):  
Ying Zhao ◽  
Xinchun Wu ◽  
Hongjun Chen ◽  
Peng Sun ◽  
Ruibo Xie ◽  
...  
Keyword(s):  
Independent Predictor ◽  
Vocabulary Knowledge ◽  
Group Differences ◽  
Regression Analyses ◽  
Deaf Students ◽  
Mediating Role ◽  
Sentence Level ◽  
Mediating Mechanisms ◽  
Potential Impact ◽  
The Relationship

Purpose This exploratory study aimed to investigate the potential impact of sentence-level comprehension and sentence-level fluency on passage comprehension of deaf students in elementary school. Method A total of 159 deaf students, 65 students ( M age = 13.46 years) in Grades 3 and 4 and 94 students ( M age = 14.95 years) in Grades 5 and 6, were assessed for nonverbal intelligence, vocabulary knowledge, sentence-level comprehension, sentence-level fluency, and passage comprehension. Group differences were examined using t tests, whereas the predictive and mediating mechanisms were examined using regression modeling. Results The regression analyses showed that the effect of sentence-level comprehension on passage comprehension was not significant, whereas sentence-level fluency was an independent predictor in Grades 3–4. Sentence-level comprehension and fluency contributed significant variance to passage comprehension in Grades 5–6. Sentence-level fluency fully mediated the influence of sentence-level comprehension on passage comprehension in Grades 3–4, playing a partial mediating role in Grades 5–6. Conclusions The relative contributions of sentence-level comprehension and fluency to deaf students' passage comprehension varied, and sentence-level fluency mediated the relationship between sentence-level comprehension and passage comprehension.

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