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Velibor Tasic, Zoran Gucev, Momir Polenakovic
Nephrotic syndrome is defined as the association of massive proteinuria, hypoalbuminaemia, edema, and hyperlipidemia. It is separated to steroid-sensitive or steroid-resistant (SRNS) forms in respect to the response to intensive steroid therapy. SRNS usually progresses to end-stage renal failure. According to the North American Pediatric Renal Trials and Collaborative Studies SRNS constitutes the second most frequent cause of ESRD in the first two decades of life. Unfortunately, there is no curative treatment for majority of patients...
2015: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
Manuel Jesús Acosta, Luis Vazquez Fonseca, Maria Andrea Desbats, Cristina Cerqua, Roberta Zordan, Eva Trevisson, Leonardo Salviati
Coenzyme Q (CoQ, or ubiquinone) is a remarkable lipid that plays an essential role in mitochondria as an electron shuttle between complexes I and II of the respiratory chain, and complex III. It is also a cofactor of other dehydrogenases, a modulator of the permeability transition pore and an essential antioxidant. CoQ is synthesized in mitochondria by a set of at least 12 proteins that form a multiprotein complex. The exact composition of this complex is still unclear. Most of the genes involved in CoQ biosynthesis (COQ genes) have been studied in yeast and have mammalian orthologues...
August 2016: Biochimica et Biophysica Acta
Emine Korkmaz, Beata S Lipska-Ziętkiewicz, Olivia Boyer, Olivier Gribouval, Cecile Fourrage, Mansoureh Tabatabaei, Sven Schnaidt, Safak Gucer, Figen Kaymaz, Mustafa Arici, Ayhan Dinckan, Sevgi Mir, Aysun K Bayazit, Sevinc Emre, Ayse Balat, Lesley Rees, Rukshana Shroff, Carsten Bergmann, Chebl Mourani, Corinne Antignac, Fatih Ozaltin, Franz Schaefer
Hereditary defects of coenzyme Q10 biosynthesis cause steroid-resistant nephrotic syndrome (SRNS) as part of multiorgan involvement but may also contribute to isolated SRNS. Here, we report 26 patients from 12 families with recessive mutations in ADCK4. Mutation detection rate was 1.9% among 534 consecutively screened cases. Patients with ADCK4 mutations showed a largely renal-limited phenotype, with three subjects exhibiting occasional seizures, one subject exhibiting mild mental retardation, and one subject exhibiting retinitis pigmentosa...
January 2016: Journal of the American Society of Nephrology: JASN
Simone Lemeer, Amin Moghaddas Gholami, Zhixiang Wu, Bernhard Kuster
Uterine leiomyomas are benign tumors affecting a large proportion of the female population. Despite the very high prevalence, the molecular basis for understanding the onset and development of the disease are still poorly understood. In this study, we profiled the proteomes and kinomes of leiomyoma as well as myometrium samples from patients to a depth of >7000 proteins including 200 kinases. Statistical analysis identified a number of molecular signatures distinguishing healthy from diseased tissue. Among these, nine kinases (ADCK4, CDK5, CSNK2B, DDR1, EPHB1, MAP2K2, PRKCB, PRKG1, and RPS6KA5) representing a number of cellular signaling pathways showed particularly strong discrimination potential...
January 2015: Proteomics
Mara Doimo, Maria A Desbats, Cristina Cerqua, Matteo Cassina, Eva Trevisson, Leonardo Salviati
Coenzyme Q10 (CoQ10) is an essential component of eukaryotic cells and is involved in crucial biochemical reactions such as the production of ATP in the mitochondrial respiratory chain, the biosynthesis of pyrimidines, and the modulation of apoptosis. CoQ10 requires at least 13 genes for its biosynthesis. Mutations in these genes cause primary CoQ10 deficiency, a clinically and genetically heterogeneous disorder. To date mutations in 8 genes (PDSS1, PDSS2, COQ2, COQ4, COQ6, ADCK3, ADCK4, and COQ9) have been associated with CoQ10 deficiency presenting with a wide variety of clinical manifestations...
July 2014: Molecular Syndromology
Maria Andrea Desbats, Giada Lunardi, Mara Doimo, Eva Trevisson, Leonardo Salviati
Coenzyme Q(10) is a remarkable lipid involved in many cellular processes such as energy production through the mitochondrial respiratory chain (RC), beta-oxidation of fatty acids, and pyrimidine biosynthesis, but it is also one of the main cellular antioxidants. Its biosynthesis is still incompletely characterized and requires at least 15 genes. Mutations in eight of them (PDSS1, PDSS2, COQ2, COQ4, COQ6, ADCK3, ADCK4, and COQ9) cause primary CoQ(10) deficiency, a heterogeneous group of disorders with variable age of onset (from birth to the seventh decade) and associated clinical phenotypes, ranging from a fatal multisystem disease to isolated steroid resistant nephrotic syndrome (SRNS) or isolated central nervous system disease...
January 2015: Journal of Inherited Metabolic Disease
Shazia Ashraf, Heon Yung Gee, Stephanie Woerner, Letian X Xie, Virginia Vega-Warner, Svjetlana Lovric, Humphrey Fang, Xuewen Song, Daniel C Cattran, Carmen Avila-Casado, Andrew D Paterson, Patrick Nitschké, Christine Bole-Feysot, Pierre Cochat, Julian Esteve-Rudd, Birgit Haberberger, Susan J Allen, Weibin Zhou, Rannar Airik, Edgar A Otto, Moumita Barua, Mohamed H Al-Hamed, Jameela A Kari, Jonathan Evans, Agnieszka Bierzynska, Moin A Saleem, Detlef Böckenhauer, Robert Kleta, Sherif El Desoky, Duygu O Hacihamdioglu, Faysal Gok, Joseph Washburn, Roger C Wiggins, Murim Choi, Richard P Lifton, Shawn Levy, Zhe Han, Leonardo Salviati, Holger Prokisch, David S Williams, Martin Pollak, Catherine F Clarke, York Pei, Corinne Antignac, Friedhelm Hildebrandt
Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has furthered the understanding of the pathogenesis of this disease. Here, using a combination of homozygosity mapping and whole human exome resequencing, we identified mutations in the aarF domain containing kinase 4 (ADCK4) gene in 15 individuals with SRNS from 8 unrelated families. ADCK4 was highly similar to ADCK3, which has been shown to participate in coenzyme Q10 (CoQ10) biosynthesis. Mutations in ADCK4 resulted in reduced CoQ10 levels and reduced mitochondrial respiratory enzyme activity in cells isolated from individuals with SRNS and transformed lymphoblasts...
December 2013: Journal of Clinical Investigation
Laura Malaga-Dieguez, Katalin Susztak
Steroid-resistant nephrotic syndrome has a poor prognosis and often leads to end-stage renal disease development. In this issue of the JCI, Ashraf and colleagues used exome sequencing to identify mutations in the aarF domain containing kinase 4 (ADCK4) gene that cause steroid-resistant nephrotic syndrome. Patients with ADCK4 mutations had lower coenzyme Q10 levels, and coenzyme Q10 supplementation ameliorated renal disease in a patient with this particular mutation, suggesting a potential therapy for patients with steroid-resistant nephrotic syndrome with ADCK4 mutations...
December 2013: Journal of Clinical Investigation
Xiaoping Li, Sang-Wook Kim, Kyoung-Tag Do, You-Kyoung Ha, Yun-Mi Lee, Suk-Hee Yoon, Hee-Bal Kim, Jong-Joo Kim, Bong-Hwan Choi, Kwan-Suk Kim
The Porcine SNP database has a huge number of SNPs, but these SNPs are mostly found by computer data-mining procedures and have not been well characterized. We re-sequenced 1,439 porcine public SNPs from four commercial pig breeds and one Korean domestic breed (Korean Native pig, KNP) by using two DNA pools from eight unrelated animals in each breed. These SNPs were from 419 protein-coding genes covering the 18 autosomes, and the re-sequencing in breeds confirmed 690 public SNPs (47.9%) and 226 novel mutations (173 SNPs and 53 insertions/deletions)...
August 2011: Molecular Biology Reports
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