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Life with too much polyprenol: polyprenol reductase deficiency.

Publication ,  Journal Article
Gründahl, JEH; Guan, Z; Rust, S; Reunert, J; Müller, B; Du Chesne, I; Zerres, K; Rudnik-Schöneborn, S; Ortiz-Brüchle, N; Häusler, MG ...
Published in: Mol Genet Metab
April 2012

Congenital disorders of glycosylation (CDG) are caused by a dysfunction of glycosylation, an essential step in the manufacturing process of glycoproteins. This paper focuses on a 6-year-old patient with a new type of CDG-I caused by a defect of the steroid 5α reductase type 3 gene (SRD5A3). The clinical features were psychomotor retardation, pathological nystagmus, slight muscular hypotonia and microcephaly. SRD5A3 was recently identified encoding the polyprenol reductase, an enzyme catalyzing the final step of the biosynthesis of dolichol, which is required for the assembly of the glycans needed for N-glycosylation. Although an early homozygous stop-codon (c.57G>A [W19X]) with no functional protein was found in the patient, about 70% of transferrin (Tf) was correctly glycosylated. Quantification of dolichol and unreduced polyprenol in the patient's fibroblasts demonstrated a high polyprenol/dolichol ratio with normal amounts of dolichol, indicating that high polyprenol levels might compete with dolichol for the initiation of N-glycan assembly but without supporting normal glycosylation and that there must be an alternative pathway for dolichol biosynthesis.

Duke Scholars

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

April 2012

Volume

105

Issue

4

Start / End Page

642 / 651

Location

United States

Related Subject Headings

  • Pentanols
  • Pedigree
  • Mutation
  • Membrane Proteins
  • Male
  • Isoelectric Focusing
  • Infant, Newborn
  • Immunoprecipitation
  • Humans
  • Homozygote
 

Citation

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Gründahl, J. E. H., Guan, Z., Rust, S., Reunert, J., Müller, B., Du Chesne, I., … Marquardt, T. (2012). Life with too much polyprenol: polyprenol reductase deficiency. Mol Genet Metab, 105(4), 642–651. https://doi.org/10.1016/j.ymgme.2011.12.017
Gründahl, J. E. H., Z. Guan, S. Rust, J. Reunert, B. Müller, I. Du Chesne, K. Zerres, et al. “Life with too much polyprenol: polyprenol reductase deficiency.Mol Genet Metab 105, no. 4 (April 2012): 642–51. https://doi.org/10.1016/j.ymgme.2011.12.017.
Gründahl JEH, Guan Z, Rust S, Reunert J, Müller B, Du Chesne I, et al. Life with too much polyprenol: polyprenol reductase deficiency. Mol Genet Metab. 2012 Apr;105(4):642–51.
Gründahl, J. E. H., et al. “Life with too much polyprenol: polyprenol reductase deficiency.Mol Genet Metab, vol. 105, no. 4, Apr. 2012, pp. 642–51. Pubmed, doi:10.1016/j.ymgme.2011.12.017.
Gründahl JEH, Guan Z, Rust S, Reunert J, Müller B, Du Chesne I, Zerres K, Rudnik-Schöneborn S, Ortiz-Brüchle N, Häusler MG, Siedlecka J, Swiezewska E, Raetz CRH, Marquardt T. Life with too much polyprenol: polyprenol reductase deficiency. Mol Genet Metab. 2012 Apr;105(4):642–651.
Journal cover image

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

April 2012

Volume

105

Issue

4

Start / End Page

642 / 651

Location

United States

Related Subject Headings

  • Pentanols
  • Pedigree
  • Mutation
  • Membrane Proteins
  • Male
  • Isoelectric Focusing
  • Infant, Newborn
  • Immunoprecipitation
  • Humans
  • Homozygote