Quantitative pedigree analysis and mitochondrial DNA sequence variants in adults with cyclic vomiting syndrome Public Deposited

Downloadable Content

Download PDF
Creator
  • Malik, Baber
    • Other Affiliation: Division of Gastroenterology and Hepatology, Medical College of Wisconsin, Milwaukee, WI, USA
  • van Tilburg, Miranda AL
    • Affiliation: School of Medicine, Department of Medicine, Division of Gastroenterology and Hepatology, UNC Center for Functional GI and Motility Disorders
  • Ali, Muhammad
    • Other Affiliation: Division of Gastroenterology and Hepatology, UT Southwestern Medical Center, Dallas, TX, USA
  • Kumar, Nilay
    • Other Affiliation: Division of Gastroenterology and Hepatology, Medical College of Wisconsin, Milwaukee, WI, USA
  • Boles, Richard G
    • Other Affiliation: Division of Medical Genetics, Children’s Hospital Los Angeles, Los Angeles, CA, USA; Department of Pediatrics, Keck School of Medicine at the University of Southern California, Los Angeles, CA, USA
  • Venkatesan, Thangam
    • Other Affiliation: Division of Gastroenterology and Hepatology, Medical College of Wisconsin, Milwaukee, WI, USA
  • Szabo, Aniko
    • Other Affiliation: Division of Biostatistics, Institute for Health and Society, Medical College of Wisconsin, Milwaukee, WI, USA
  • Zaki, Essam A
    • Other Affiliation: Division of Medical Genetics, Children’s Hospital Los Angeles, Los Angeles, CA, USA
  • Sengupta, Jyotirmoy
    • Other Affiliation: Division of Gastroenterology and Hepatology, Medical College of Wisconsin, Milwaukee, WI, USA
Abstract
  • Abstract Background Children with cyclic vomiting syndrome (CVS) have a high degree of maternal inheritance of functional gastrointestinal and neurological disorders. CVS in children is also associated with an increased prevalence of mitochondrial DNA single-nucleotide polymorphisms (mtDNA SNPs) 16519 T and 3010A. Preliminary data suggests that age of onset of symptoms (pediatric vs. adult) may be a determinant of the presence of such mtDNA SNP’s. We sought to examine the degree of maternal inheritance pattern of functional disorders and the prevalence of mtDNA SNP’s16519T and 3010A in adults with CVS and correlate this with age of onset of disease. Methods A Quantitative Pedigree Analysis (QPA) was performed in 195 of a total of 216 patients and all were genotyped using Restriction Fragment Length Polymorphism (RFLP) or sequencing. Results Adults with CVS had a higher degree of probable maternal inheritance (PMI) of functional disorders than controls (12% vs. 1%, p < 0.001). However, the prevalence of mitochondrial SNP’s 16519 T, 3010A and the AT genotype were similar in Haplogroup H CVS patients compared to historical controls. There was no correlation between age of onset of disease and prevalence of these mtDNA SNP’s. Conclusions A subset of adults with CVS has a significantly higher degree of maternal inheritance pattern of functional disorders than controls. There was no association with mtDNA SNP’s 16519 T and 3010A as seen in children and future studies sequencing the entire mitochondrial and nuclear genome to identify potential causes for this maternal inheritance pattern in adults are warranted.
Date of publication
Identifier
  • 25332060
  • doi:10.1186/1471-230X-14-181
Resource type
  • Article
Rights statement
  • In Copyright
Rights holder
  • Thangam Venkatesan et al.; licensee BioMed Central Ltd.
License
Journal title
  • BMC Gastroenterology
Journal volume
  • 14
Journal issue
  • 1
Page start
  • 181
Language
  • English
Is the article or chapter peer-reviewed?
  • Yes
ISSN
  • 1471-230X
Bibliographic citation
  • BMC Gastroenterology. 2014 Oct 21;14(1):181
Access
  • Open Access
Publisher
  • BioMed Central Ltd
Parents:

This work has no parents.

Items