Loss of aldh18a1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3a and warburg micro syndrome

Molecular Genetics and Genomic Medicine

Volumn 2, Issue 4, 2014, Pages 319-325

  Handley, Mark T ^a   Megarbane, Andre ^b,c   Meynert, Alison M ^a   Brown, Stephen ^a   Freyer, Elisabeth ^a   Taylor, Martin S ^a   Jackson, Ian J ^a   Aligianis, Irene A ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b Institut Médical Jérôme Lejeune et Fondation Jérome Lejeune   (France)

^c SAINT JOSEPH UNIVERSITY   (Lebanon)

Author keywords

ARCL3A; Cutis laxa; Lipid droplets; Warburg Micro syndrome

Indexed keywords

EID: 84905225294     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.70     Document Type: Article

References (25)

1. Baumgartner, M. R., C. A. Hu, S. Almashanu, G. Steel, C. Obie, B. Aral, et al. 2000. Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta (1)-pyrroline-5-carboxylate synthase. Hum. Mol. Genet. 9:2853–2858.
2. Baumgartner, M. R., D. Rabier, M. C. Nassogne, J. L. Dufier, J. P. Padovani, P. Kamoun, et al. 2005. Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline. Eur. J. Pediatr. 164:31–36.
3. Bicknell, L. S., J. Pitt, S. Aftimos, R. Ramadas, M. A. Maw, and S. P. Robertson. 2008. A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. Eur. J. Hum. Genet. 16:1176–1186.
4. Dimopoulou, A., B. Fischer, T. Gardeitchik, P. Schroter, H. Kayserili, C. Schlack, et al. 2013. Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Mol. Genet. Metab. 110:352–361.
5. Eastman, S. W., M. Yassaee, and P. D. Bieniasz. 2009. A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover. J. Cell Biol. 184:881–894.
6. Elahi, E., R. Kalhor, S. S. Banihosseini, N. Torabi, H. Pour-Jafari, M. Houshmand, et al. 2006. Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. J. Invest. Dermatol. 126:1506–1509.
7. Guernsey, D. L., H. Jiang, S. C. Evans, M. Ferguson, M. Matsuoka, M. Nightingale, et al. 2009. Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. Am. J. Hum. Genet. 85:120–129.
8. Handley,M.T.,D.J.Morris-Rosendahl,S.Brown,F. Macdonald, C. Hardy, D. Bem, et al. 2013. Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. Hum. Mutat. 34:686–696.
9. Hennies, H. C., U. Kornak, H. Zhang, J. Egerer, X. Zhang, W. Seifert, et al. 2008. Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat. Genet. 40:1410–1412.
10. Hucthagowder, V., N. Sausgruber, K. H. Kim, B. Angle, L. Y. Marmorstein, and Z. Urban. 2006. Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am. J. Hum. Genet. 78:1075–1080.
11. Kornak, U., E. Reynders, A. Dimopoulou, J. Van Reeuwijk, B. Fischer, A. Rajab, et al. 2008. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H +-ATPase subunit ATP6V0A2. Nat. Genet. 40:32–34.
12. Liegel, R. P., M. T. Handley, A. Ronchetti, S. Brown, L. Langemeyer, A. Linford, et al. 2013. Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile (bs) mice and Warburg Micro syndrome in humans. Am. J. Hum. Genet. 93:1001–1014.
13. Lu, J., F. Rashid, and P. C. Byrne. 2006. The hereditary spastic paraplegia protein spartin localises to mitochondria. J. Neurochem. 98:1908–1919.
14. Martinelli, D., J. Haberle, V. Rubio, C. Giunta, I. Hausser, R. Carrozzo, et al. 2012. Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. J. Inherit. Metab. Dis. 35:761–776.
15. Megarbane, H., J. Florence, J. O. Sass, S. Schwonbeck, M. Foglio, R. De Cid, et al. 2009. An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism. J. Invest. Dermatol. 129:1650–1655.
16. Mohamed, M., D. Kouwenberg, T. Gardeitchik, U. Kornak, R. A. Wevers, and E. Morava. 2011. Metabolic cutis laxa syndromes. J. Inherit. Metab. Dis. 34:907–916.
17. Reversade, B., N. Escande-Beillard, A. Dimopoulou, B. Fischer, S. C. Chng, Y. Li, et al. 2009. Mutations in PYCR1 cause cutis laxa with progeroid features. Nat. Genet. 41:1016–1021.
18. Scherrer, D. Z., M. B. Baptista, A. H. Matos, C. V. Maurer-Morelli, and C. E. Steiner. 2013. Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2. Eur. J. Med. Genet. 56:336–339.
19. Skidmore, D. L., D. Chitayat, T. Morgan, A. Hinek, B. Fischer, A. Dimopoulou, et al. 2011. Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Delta(1)-pyrroline-5-carboxylate synthase (P5CS). Am. J. Med. Genet. A 155A:1848–1856.
20. Thompson, J. D., G. D. Higgins, and T. J. Gibson. 1994. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucl. Acids Res. 22:4673–4680.
21. Urban, Z., V. Hucthagowder, N. Schurmann, V. Todorovic, L. Zilberberg, J. Choi, et al. 2009. Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. Am. J. Hum. Genet. 85:593–605.
22. Walther, T. C., and R. V. Jr Farese. 2012. Lipid droplets and cellular lipid metabolism. Annu. Rev. Biochem. 81:687–714.
23. Wang, H., E. Wei, A. D. Quiroga, X. Sun, N. Touret, and R. Lehner. 2010. Altered lipid droplet dynamics in hepatocytes lacking triacylglycerol hydrolase expression. Mol. Biol. Cell 21:1991–2000.
24. Yildirim, Y., A. Tolun, and B. Tuysuz. 2011. The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. Am. J. Med. Genet. A 155A:134–140.
25. Zampatti, S., M. Castori, B. Fischer, P. Ferrari, L. Garavelli, C. Dionisi-Vici, et al. 2012. De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. Am. J. Med. Genet. A 158A:927–931.