{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T11:13:47Z","timestamp":1790162027091,"version":"4.1.0"},"reference-count":58,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JASN"],"published-print":{"date-parts":[[2019,3]]},"abstract":"\n Significance Statement<\/jats:title>\n \n Studies have identified mutations in >55 genes that cause steroid-resistant nephrotic syndrome (SRNS) and localized SRNS pathogenesis to podocytes. The authors previously reported that individuals with mutations in COQ6, a coenzyme Q (CoQ\n 10<\/jats:sub>\n , CoQ, or ubiquinone) biosynthesis pathway enzyme, develop SRNS, and demonstrated that CoQ can reduce kidney dysfunction. In this study, they generated a podocyte-specific\n Coq6<\/jats:italic>\n knockout mouse and showed that abrogating Coq6 in mouse podocytes caused FSGS and proteinuria.\n In vitro<\/jats:italic>\n studies revealed an impaired podocyte migration rate in\n COQ6<\/jats:italic>\n knockdown human podocytes. Treating affected mice or cells with 2,4-dihydroxybenzoic acid, an analog of a CoQ precursor molecule, prevented renal dysfunction and reversed migration rate impairment. This suggests a potential therapeutic approach for those cases of human nephrotic syndrome that result from a primary dysfunction in the CoQ\n 10<\/jats:sub>\n biosynthesis pathway.\n <\/jats:p>\n <\/jats:sec>\n \n Background<\/jats:title>\n \n Although studies have identified >55 genes as causing steroid-resistant nephrotic syndrome (SRNS) and localized its pathogenesis to glomerular podocytes, the disease mechanisms of SRNS remain largely enigmatic. We recently reported that individuals with mutations in COQ6, a coenzyme Q (also called CoQ\n 10<\/jats:sub>\n , CoQ, or ubiquinone) biosynthesis pathway enzyme, develop SRNS with sensorineural deafness, and demonstrated the beneficial effect of CoQ for maintenace of kidney function.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n To study\n COQ6<\/jats:italic>\n function in podocytes, we generated a podocyte-specific\n Coq6<\/jats:italic>\n knockout mouse (\n Coq6podKO<\/jats:italic>\n ) model and a transient siRNA-based\n COQ6<\/jats:italic>\n knockdown in a human podocyte cell line. Mice were monitored for development of proteinuria and assessed for development of glomerular sclerosis. Using a podocyte migration assay, we compared motility in\n COQ6<\/jats:italic>\n knockdown podocytes and control podocytes. We also randomly assigned 5-month-old\n Coq6podKO<\/jats:italic>\n mice and controls to receive no treatment or 2,4-dihydroxybenzoic acid (2,4-diHB), an analog of a CoQ precursor molecule that is classified as a food additive by health authorities in Europe and the United States.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Abrogation of\n Coq6<\/jats:italic>\n in mouse podocytes caused FSGS and proteinuria (>46-fold increases in albuminuria).\n In vitro<\/jats:italic>\n studies revealed an impaired podocyte migration rate in\n COQ6<\/jats:italic>\n knockdown human podocytes. Treating\n Coq6podKO<\/jats:italic>\n mice or cells with 2,4-diHB prevented renal dysfunction and reversed podocyte migration rate impairment. Survival of\n Coq6podKO<\/jats:italic>\n mice given 2,4diHB was comparable to that of control mice and significantly higher than that of untreated\n Coq6podKO<\/jats:italic>\n mice, half of which died by 10 months of age.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n These findings reveal a potential novel treatment strategy for those cases of human nephrotic syndrome that are caused by a primary dysfunction in the CoQ\n 10<\/jats:sub>\n biosynthesis pathway.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1681\/asn.2018060625","type":"journal-article","created":{"date-parts":[[2019,2,8]],"date-time":"2019-02-08T15:53:38Z","timestamp":1549641218000},"page":"393-405","source":"Crossref","is-referenced-by-count":51,"title":["Treatment with 2,4-Dihydroxybenzoic Acid Prevents FSGS Progression and Renal Fibrosis in Podocyte-Specific Coq6 Knockout Mice"],"prefix":"10.1681","volume":"30","author":[{"given":"Eugen","family":"Widmeier","sequence":"first","affiliation":[{"name":"Division of Nephrology, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"},{"name":"Department of Medicine IV, Medical Center\u2013University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merlin","family":"Airik","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Pittsburgh, Pittsburgh, Pennsylvania; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Hugo","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Schapiro","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Wedel","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chandra C.","family":"Ghosh","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makiko","family":"Nakayama","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronen","family":"Schneider","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agape M.","family":"Awad","sequence":"additional","affiliation":[{"name":"Department of Chemistry and Biochemistry and Molecular Biology Institute, University of California, Los Angeles, Los Angeles, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anish","family":"Nag","sequence":"additional","affiliation":[{"name":"Department of Chemistry and Biochemistry and Molecular Biology Institute, University of California, Los Angeles, Los Angeles, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jang","family":"Cho","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Schueler","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine F.","family":"Clarke","sequence":"additional","affiliation":[{"name":"Department of Chemistry and Biochemistry and Molecular Biology Institute, University of California, Los Angeles, Los Angeles, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rannar","family":"Airik","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Pittsburgh, Pittsburgh, Pennsylvania; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friedhelm","family":"Hildebrandt","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Boston Children\u2019s Hospital, Harvard Medical School, Boston, 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