Open AccessDifferential Gene Expression Reveals Mitochondrial Dysfunction in an Imprinting Center Deletion Mouse Model of Prader–Willi Syndrome
Author(s) -
Yazdi Puya G.,
Su Hailing,
Ghimbovschi Svetlana,
Fan Weiwei,
Coskun Pinar E.,
Nalbandian Angèle,
Knoblach Susan,
Resnick James L.,
Hoffman Eric,
Wallace Douglas C.,
Kimonis Virginia E.
Publication year - 2013
Publication title -
clinical and translational science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.303
H-Index - 44
eISSN - 1752-8062
pISSN - 1752-8054
DOI - 10.1111/cts.12083
Subject(s) - imprinting (psychology) , genomic imprinting , hypotonia , biology , endocrinology , short stature , mitochondrial dna , gene , mitochondrion , medicine , gene expression , genetics , dna methylation
Prader–Willi syndrome (PWS) is a genetic disorder caused by deficiency of imprinted gene expression from the paternal chromosome 15q11–15q13 and clinically characterized by neonatal hypotonia, short stature, cognitive impairment, hypogonadism, hyperphagia, morbid obesity, and diabetes. Previous clinical studies suggest that a defect in energy metabolism may be involved in the pathogenesis of PWS. We focused our attention on the genes associated with energy metabolism and found that there were 95 and 66 mitochondrial genes differentially expressed in PWS muscle and brain, respectively. Assessment of enzyme activities of mitochondrial oxidative phosphorylation complexes in the brain, heart, liver, and muscle were assessed. We found the enzyme activities of the cardiac mitochondrial complexes IIIII were up‐regulated in the PWS imprinting center deletion mice compared to the wild‐type littermates. These studies suggest that differential gene expression, especially of the mitochondrial genes may contribute to the pathophysiology of PWS.