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Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency

Overview of attention for article published in European Journal of Human Genetics, July 2018
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Title
Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency
Published in
European Journal of Human Genetics, July 2018
DOI 10.1038/s41431-018-0209-0
Pubmed ID
Authors

Anshika Srivastava, Kinshuk Raj Srivastava, Malavika Hebbar, Chelna Galada, Rajagopal Kadavigrere, Fengyun Su, Xuhong Cao, Arul M. Chinnaiyan, Katta M. Girisha, Anju Shukla, Stephanie L. Bielas

Abstract

Medical genomics research performed in diverse population facilitates a better understanding of the genetic basis of developmental disorders, with regional implications for community genetics. Autosomal recessive mitochondrial complex I deficiency (MCID) accounts for a constellation of clinical features, including encephalopathies, myopathies, and Leigh Syndrome. Using whole-exome sequencing, we identified biallelic missense variants in NDUFV1 that encodes the 51-kD subunit of complex I (NADH dehydrogenase) NDUFV1. Mapping the variants on published crystal structures of mitochondrial complex I demonstrate that the novel c.1118T > C (p.(Phe373Ser)) variant is predicted to diminish the affinity of the active pocket of NDUFV1 for FMN that correlates to an early onset of debilitating MCID symptoms. The c.1156C > T (p.(Arg386Cys)) variant is predicted to alter electron shuttling required for energy production and correlate to a disease onset in childhood. NDUFV1 c.1156C > T (p.(Arg386Cys)) represents a founder variant in South Asian populations that have value in prioritizing this variant in a population-specific manner for genetic diagnostic evaluation. In conclusion, our results demonstrate the advantage of analyzing population-specific sequences to understand the disease pathophysiology and prevalence of inherited risk variants in the underrepresented populations.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 31 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 31 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 7 23%
Student > Doctoral Student 2 6%
Unspecified 2 6%
Student > Bachelor 2 6%
Professor 2 6%
Other 4 13%
Unknown 12 39%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 8 26%
Medicine and Dentistry 3 10%
Agricultural and Biological Sciences 3 10%
Unspecified 2 6%
Pharmacology, Toxicology and Pharmaceutical Science 1 3%
Other 1 3%
Unknown 13 42%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 07 July 2018.
All research outputs
#17,982,872
of 23,094,276 outputs
Outputs from European Journal of Human Genetics
#3,058
of 3,460 outputs
Outputs of similar age
#236,745
of 327,553 outputs
Outputs of similar age from European Journal of Human Genetics
#41
of 59 outputs
Altmetric has tracked 23,094,276 research outputs across all sources so far. This one is in the 19th percentile – i.e., 19% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,460 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 9.9. This one is in the 9th percentile – i.e., 9% 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 327,553 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 22nd percentile – i.e., 22% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 59 others from the same source and published within six weeks on either side of this one. This one is in the 23rd percentile – i.e., 23% of its contemporaries scored the same or lower than it.