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Pathogenic Mitochondria DNA Mutations: Current Detection Tools and Interventions

Overview of attention for article published in Genes, February 2020
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2 X users

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35 Dimensions

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48 Mendeley
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Title
Pathogenic Mitochondria DNA Mutations: Current Detection Tools and Interventions
Published in
Genes, February 2020
DOI 10.3390/genes11020192
Pubmed ID
Authors

Mohd Fazirul Mustafa, Sharida Fakurazi, Maizaton Atmadini Abdullah, Sandra Maniam

Abstract

Mitochondria are best known for their role in energy production, and they are the only mammalian organelles that contain their own genomes. The mitochondrial genome mutation rate is reported to be 10-17 times higher compared to nuclear genomes as a result of oxidative damage caused by reactive oxygen species during oxidative phosphorylation. Pathogenic mitochondrial DNA mutations result in mitochondrial DNA disorders, which are among the most common inherited human diseases. Interventions of mitochondrial DNA disorders involve either the transfer of viable isolated mitochondria to recipient cells or genetically modifying the mitochondrial genome to improve therapeutic outcome. This review outlines the common mitochondrial DNA disorders and the key advances in the past decade necessary to improve the current knowledge on mitochondrial disease intervention. Although it is now 31 years since the first description of patients with pathogenic mitochondrial DNA was reported, the treatment for mitochondrial disease is often inadequate and mostly palliative. Advancements in diagnostic technology improved the molecular diagnosis of previously unresolved cases, and they provide new insight into the pathogenesis and genetic changes in mitochondrial DNA diseases.

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The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 48 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 48 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 5 10%
Researcher 5 10%
Student > Bachelor 4 8%
Student > Doctoral Student 3 6%
Student > Postgraduate 3 6%
Other 9 19%
Unknown 19 40%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 11 23%
Medicine and Dentistry 5 10%
Immunology and Microbiology 3 6%
Agricultural and Biological Sciences 2 4%
Neuroscience 2 4%
Other 3 6%
Unknown 22 46%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 06 November 2020.
All research outputs
#15,659,334
of 23,883,950 outputs
Outputs from Genes
#2,945
of 6,039 outputs
Outputs of similar age
#265,918
of 461,882 outputs
Outputs of similar age from Genes
#113
of 234 outputs
Altmetric has tracked 23,883,950 research outputs across all sources so far. This one is in the 32nd percentile – i.e., 32% of other outputs scored the same or lower than it.
So far Altmetric has tracked 6,039 research outputs from this source. They receive a mean Attention Score of 4.7. This one is in the 46th percentile – i.e., 46% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 461,882 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 39th percentile – i.e., 39% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 234 others from the same source and published within six weeks on either side of this one. This one is in the 45th percentile – i.e., 45% of its contemporaries scored the same or lower than it.