Article
Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk.
American journal of human genetics - 5 May 2022
Willcox Jon A L, Geiger Joshua T, Morton Sarah U, McKean David, Quiat Daniel, Gorham Joshua M, Tai Angela C, DePalma Steven, Bernstein Daniel, Brueckner Martina, Chung Wendy K, Giardini Alessandro, Goldmuntz Elizabeth, Kaltman Jonathan R, Kim Richard, Newburger Jane W, Shen Yufeng, Srivastava Deepak, Tristani-Firouzi Martin, Gelb Bruce, Porter George A, Seidman J G, Seidman Christine E
Abstract excerpt
The well-established manifestation of mitochondrial mutations in functional cardiac disease (e.g., mitochondrial cardiomyopathy) prompted the hypothesis that mitochondrial DNA (mtDNA) sequence and/or copy number (mtDNAcn) variation contribute to cardiac defects in congenital heart disease (CHD). MtDNAcns were calculated and rare, non-synonymous mtDNA mutations were identified in 1,837 CHD-affected proband-parent...
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