Mevalonic aciduria: Pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts

1988 ◽  
Vol 11 (S2) ◽  
pp. 229-232 ◽  
Author(s):  
G. Hoffmann ◽  
K. M. Gibson ◽  
W. L. Nyhan ◽  
L. Sweetman
Keyword(s):  
Cholesterol Metabolism ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Mevalonic Aciduria

Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria

1997 ◽  
Vol 20 (3) ◽  
pp. 391-394 ◽  
Author(s):  
K. M. Gibson ◽  
G. F. Hoffmann ◽  
L. Sweetman ◽  
B. Buckingham
Keyword(s):  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Dizygotic Twin ◽  
Mevalonic Aciduria

Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria

1988 ◽  
Vol 148 (3) ◽  
pp. 250-252 ◽  
Author(s):  
K. M. Gibson ◽  
G. Hoffmann ◽  
W. L. Nyhan ◽  
L. Sweetman ◽  
R. Berger ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Mevalonic Aciduria

Mevalonic aciduria: Family studies in mevalonate kinase deficiency, an inborn error of cholesterol biosynthesis

1987 ◽  
Vol 10 (S2) ◽  
pp. 282-285 ◽  
Author(s):  
K. M. Gibson ◽  
G. Hoffmann ◽  
W. L. Nyhan ◽  
L. Sweetman ◽  
I. K. Brandt ◽  
...  
Keyword(s):  
Inborn Error ◽  
Cholesterol Biosynthesis ◽  
Family Studies ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Mevalonic Aciduria

scholarly journals Cholesterol metabolism drives regulatory B cell function

2020 ◽  
Author(s):  
Jack A. Bibby ◽  
Harriet A. Purvis ◽  
Thomas Hayday ◽  
Anita Chandra ◽  
Klaus Okkenhaug ◽  
...  
Keyword(s):  
B Cells ◽  
Cell Function ◽  
Inflammatory Responses ◽  
Cholesterol Metabolism ◽  
Gene Mutations ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Regulatory B Cells ◽  
Metabolic Intermediate ◽  
Regulatory B Cell

SummaryRegulatory B cells restrict immune and inflammatory responses across a number of contexts. This capacity is mediated primarily through the production of IL-10. Here we demonstrate that the induction of a regulatory program in human B cells is dependent on a metabolic priming event driven by cholesterol metabolism. Synthesis of the metabolic intermediate geranylgeranyl pyrophosphate (GGPP) was required to specifically drive IL-10 production, and to attenuate Th1 responses. Furthermore, GGPP-dependent protein modifications controlled signaling through PI3Kδ-AKT-GSK3, which in turn promoted BLIMP1-dependent IL-10 production. Inherited gene mutations in cholesterol metabolism result in a severe autoinflammatory syndrome, termed mevalonate kinase deficiency (MKD). Consistent with our findings, B cells from MKD patients induced poor IL-10 responses and were functionally impaired. Moreover, metabolic supplementation with GGPP was able to reverse this defect. Collectively, our data define cholesterol metabolism as an integral metabolic pathway for the optimal functioning of human IL-10 producing regulatory B cells.Graphical abstractMKD = Mevalonate kinase deficiency

Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency

1993 ◽  
Vol 217 (2) ◽  
pp. 217-220 ◽  
Author(s):  
K.Michael Gibson ◽  
Frans Stellaard ◽  
Georg F. Hoffmann ◽  
Dietz Rating ◽  
Martin Hrebicek ◽  
...  
Keyword(s):  
Bile Acid ◽  
Acid Metabolism ◽  
Bile Acid Metabolism ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Mevalonic Aciduria

Mevalonate Kinase Deficiency: Diagnostic and Management Challenges

2021 ◽  
Author(s):  
Puneet Kumar Choudhary ◽  
Vivek Parihar ◽  
Jagatshreya Satapathy ◽  
Narendra Kumar Bagri
Keyword(s):  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase
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