DHDDS

Disease Category: autosomal recessive

Patient Population:

Known Clinical Trials: None known

Treatment Options: None known

Strategies to Preserve Eye Health: 

Institution(s) Conducting Research: UAB, SUNY-Buffalo and the Polish Academy of Sciences

 

A FACE OF RP

Image by Peter Nguyen

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IN THE NEWS

ACADEMIC PAPERS | JOURNAL ARTICLES | PERSONAL STORIES

Retinal Degeneration Caused by Rod-Specific Dhdds Ablation Occurs without Concomitant Inhibition of Protein N-Glycosylation

Dehydrodolichyl diphosphate synthase (DHDDS) catalyzes the committed step in dolichol synthesis. Recessive mutations in DHDDS cause retinitis pigmentosa (RP59), resulting in blindness. We hypothesized that rod photoreceptor-specific ablation of Dhdds would cause retinal degeneration due to diminished dolichol-dependent protein N-glycosylation.

Knockdown of Dehydrodolichyl Diphosphate Synthase in the  Drosophila Retina Leads to a Unique Pattern of Retinal Degeneration

Dehydrodolichyl diphosphate synthase (DHDDS) catalyzes the committed step in dolichol synthesis. Recessive mutations in DHDDS cause retinitis pigmentosa (RP59), resulting in blindness. We hypothesized that rod photoreceptor-specific ablation of Dhdds would cause retinal degeneration due to diminished dolichol-dependent protein N-glycosylation.

A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews

Lina Zelinger, Eyal Banin, Alexey Obolensky, Liliana Mizrahi-Meissonnier, Avigail Beryozkin, Dikla Bandah-Rozenfeld, Shahar Frenkel, Tamar Ben-Yosef, Saul Merin, Sharon B. SchwartzArtur V. Cideciyan, Samuel G. Jacobson, Dror Sharon | AJHG| 2011 Feb 11 | 88(2) | 207–215 | 

doi: 10.1016/j.ajhg.2011.01.002

Using homozygosity mapping in Ashkenazi Jewish (AJ) patients with autosomal-recessive RP (arRP), we identified a shared 1.7 Mb homozygous region on chromosome 1p36.11. Sequence analysis revealed a founder homozygous missense mutation, c.124A>G (p.Lys42Glu), in the dehydrodolichyl diphosphate synthase gene (DHDDS) in 20 AJ patients with RP of 15 unrelated families. . . DHDDS is a key enzyme in the pathway of dolichol, which plays an important role in N-glycosylation of many glycoproteins, including rhodopsin. Our results support a pivotal role of DHDDS in retinal function and may allow for new therapeutic interventions for RP.

Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa

Byron L Lam, Stephan L Züchner, Julia Dallman, Rong Wen, Eduardo C Alfonso, Jeffery M Vance, Margaret A Peričak-Vance | Advances in Experimental Medicine and Biology book series | 2014 | vol. 801 | 165-70 |

doi: 10.1007/978-1-4614-3209-8_21

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Update

A single-nucleotide mutation in the gene that encodes DHDDS has been identified by whole exome sequencing as the cause of the non-syndromic recessive retinitis pigmentosa (RP) in a family of Ashkenazi Jewish origin in which three of the four siblings have early onset retinal degeneration. The peripheral retinal degeneration in the affected siblings was evident in the initial examination in 1992 and only one had detectable electroretinogram (ERG) that suggested cone-rod dysfunction.