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Mitochondrial respiratory chain disorders in the Old Order Amish population

Overview of attention for article published in Molecular Genetics & Metabolism, August 2016
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Title
Mitochondrial respiratory chain disorders in the Old Order Amish population
Published in
Molecular Genetics & Metabolism, August 2016
DOI 10.1016/j.ymgme.2016.06.005
Pubmed ID
Authors

Lina Ghaloul-Gonzalez, Amy Goldstein, Catherine Walsh Vockley, Steven F. Dobrowolski, Amy Biery, Afifa Irani, Jordan Ibarra, D. Holmes Morton, Al-Walid Mohsen, Jerry Vockley

Abstract

The Old Order Amish populations in the US are one of the Plain People groups and are descendants of the Swiss Anabaptist immigrants who came to North America in the early eighteenth century. They live in numerous small endogamous demes that have resulted in reduced genetic diversity along with a high prevalence of specific genetic disorders, many of them autosomal recessive mitochondrial respiratory chain deficiencies arising from mitochondrial or nuclear DNA mutations have not previously been reported in the Plain populations. Here we present four different Amish families with mitochondrial respiratory chain disorders. Mutations in two mitochondrial encoded genes leading to mitochondrial respiratory chain disorder were identified in two patients. In the first case, MELAS syndrome caused by a mitochondrial DNA (mtDNA) mutation (m.3243A>G) was identified in an extended Amish pedigree following a presentation of metabolic strokes in the proband. Characterization of the extended family of the proband by a high resolution melting assay identified the same mutation in many previously undiagnosed family members with a wide range of clinical symptoms. A MELAS/Leigh syndrome phenotype caused by a mtDNA mutation [m.13513G>A; p.Asp393Asn] in the ND5 gene encoding the ND5 subunit of respiratory chain complex I was identified in a patient in a second family. Mutations in two nuclear encoded genes leading to mitochondrial respiratory chain disorder were also identified in two patients. One patient presented with Leigh syndrome and had a homozygous deletion in the NDUFAF2 gene, while the second patient had a homozygous mutation in the POLG gene, [c.1399G>A; p.Ala467Thr]. Our findings identify mitochondrial respiratory chain deficiency as a cause of disease in the Old Order Amish that must be considered in the context of otherwise unexplained systemic disease, especially if neuromuscular symptoms are present.

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Mendeley readers

The data shown below were compiled from readership statistics for 34 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 34 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 6 18%
Student > Ph. D. Student 4 12%
Researcher 4 12%
Student > Postgraduate 3 9%
Student > Bachelor 3 9%
Other 8 24%
Unknown 6 18%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 7 21%
Neuroscience 6 18%
Medicine and Dentistry 6 18%
Nursing and Health Professions 3 9%
Social Sciences 3 9%
Other 3 9%
Unknown 6 18%

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 28 June 2016.
All research outputs
#10,812,899
of 12,196,880 outputs
Outputs from Molecular Genetics & Metabolism
#1,165
of 1,315 outputs
Outputs of similar age
#223,976
of 270,129 outputs
Outputs of similar age from Molecular Genetics & Metabolism
#26
of 34 outputs
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So far Altmetric has tracked 1,315 research outputs from this source. They receive a mean Attention Score of 3.8. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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