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PUBLIC RELEASE DATE:
25-Nov-2013

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Contact: Corinne Williams
press_releases@the-jci.org
Journal of Clinical Investigation

Identification of a genetic mutation associated with steroid-resistant nephritic syndrome

Patients with nephritic syndrome exhibit an array of symptoms that are associated with loss of kidney function, including excess protein in urine, swelling, and albuminuria. Many nephritic syndrome patients respond well to treatment with steroids; however, subsets of patients are resistant to steroid treatment and are at high risk of kidney failure. Recent studies have identified single gene mutations that are associated with development of steroid-resistant nephritic syndrome; however, these mutations account for approximately half of all steroid-resistant cases. In this issue of the Journal of Clinical Investigation, Friedhelm Hildebrandt and colleagues at Boston Children's Hospital identified mutations in gene encoding the aarF domain containing kinase 4 (ADCK4) in 15 individuals with steroid-resistant nephritic syndrome from 8 different families. The authors found that cells isolated from patients with ADCK4 mutations had reduced levels of coenzyme Q1 (CoQ10), and decreased mitochondrial respiration. Furthermore, one patient with ACDK4-assocatiated steroid-resistant nephritic syndrome showed improvement following treatment with CoQ10. In their companion commentary, Laura Malaga-Dieguez and Katalin Susztak of the University of Pennsylvania suggest that CoQ10 treatment may be promising for a subset of patients with steroid-resistant nephritic syndrome.

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TITLE: ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

AUTHOR CONTACT: Friedhelm Hildebrandt
HHMI/Boston Children's Hospital, Boston, MA, USA
Phone: 617-355-6129; Fax: 617-730-0365; E-mail: friedhelm.hildebrandt@childrens.harvard.edu

View this article at: http://www.jci.org/articles/view/69000?key=9aeeb2804ee3135671b5

ACCOMPANYING COMMENTARY

TITLE: ADCK4 "reenergizes" nephrotic syndrome

AUTHOR CONTACT: Katalin Susztak
University of Pennsylvania, Philadelphia, PA, USA
Phone: 215-662-7934; Fax: ; E-mail: ksusztak@mail.med.upenn.edu

View this article at: http://www.jci.org/articles/view/73168?key=b544e88ac6b999168409



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