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Decreased energy expenditure in PWS is thought to contribute to reduced muscle mass and physical activity but may also relate to cellular metabolism and disturbances in mitochondrial function. We established fibroblast cell lines from six children and adults with PWS and six healthy controls for mitochondrial assays. We used Agilent Seahorse XF extracellular flux technology to determine real\u2010time measurements of several metabolic parameters including cellular substrate utilization, Adenosine Triphosphate (ATP)\u2010linked respiration, and mitochondrial capacity in living cells. Decreased mitochondrial function was observed in the PWS patients compared to the healthy controls with significant differences in basal respiration, maximal respiratory capacity, and ATP\u2010linked respiration. These results suggest disturbed mitochondrial bioenergetics in PWS although the low number of studied subjects will require a larger subject population before a general consensus can be reached to identify if mitochondrial dysfunction is a contributing factor in PWS.<\/jats:p>","DOI":"10.1002\/ajmg.a.40526","type":"journal-article","created":{"date-parts":[[2018,10,6]],"date-time":"2018-10-06T09:40:38Z","timestamp":1538818838000},"page":"2587-2594","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Preliminary observations of mitochondrial dysfunction in Prader\u2013Willi syndrome"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2911-0524","authenticated-orcid":false,"given":"Merlin G.","family":"Butler","sequence":"first","affiliation":[{"name":"Departments of Psychiatry &amp; Behavioral Sciences and Pediatrics University of Kansas Medical Center  Kansas City Kansas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Waheeda A.","family":"Hossain","sequence":"additional","affiliation":[{"name":"Departments of Psychiatry &amp; Behavioral Sciences and Pediatrics University of Kansas Medical Center  Kansas City Kansas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Tessman","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Toxicology, &amp; Therapeutics University of Kansas Medical Center  Kansas City Kansas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Partha C.","family":"Krishnamurthy","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Toxicology, &amp; Therapeutics University of Kansas Medical Center  Kansas City Kansas"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,10,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1995.0579d.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.3945\/an.117.016253"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40618-015-0312-9"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn150"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.8.568"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20110162"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1096\/fasebj.6.11.1644259"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-0-387-33536-0"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350306"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.2174\/138920211795677877"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.pmbts.2015.12.003"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10055"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38582"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260224"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230307"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31507"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.2147\/AGG.S74598"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e31822bead0"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1155\/2017\/9251303"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20498"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1152\/physiol.00046.2010"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.freeradbiomed.2011.08.005"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/415096a"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32137"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.60.9.1279"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1089\/ars.2012.4523"},{"key":"e_1_2_7_28_1","first-page":"27","article-title":"Resting metabolic rate in Prader\u2013Willi syndrome","volume":"4","author":"Hill J. 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