Related Experiment Video
Updated: May 4, 2026
10:32
Organotypic Retinal Explant Cultures from Macaque Monkey
Published on: August 24, 2022
1.4K
Prenylation defects in inherited retinal diseases
Susanne Roosing1, Rob W J Collin, Anneke I den Hollander
1Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Journal of Medical Genetics
|January 10, 2014
Summary
Prenylation defects impact retinal protein function, causing inherited retinal diseases. Mevalonate kinase deficiency may deplete prenyl groups, affecting retinal protein prenylation and leading to photoreceptor degeneration.
Area of Science:
- Biochemistry
- Cell Biology
- Ophthalmology
Background:
- Post-translational prenylation is crucial for retinal protein localization and membrane anchoring.
- Prenylation defects are implicated in various inherited retinal diseases (IRDs).
- Key retinal proteins involved in phototransduction and transport rely on prenylation.
Purpose of the Study:
- To review the spectrum of prenylation defects in inherited retinal diseases.
- To explore the role of mevalonate kinase (MVK) deficiency in retinal degeneration.
- To highlight the impact of prenyl moiety depletion on retinal proteins, including Rabs.
Main Methods:
- Literature review of prenylation defects and IRDs.
- Analysis of proteins affected by prenylation defects (e.g., GRK1, PDE6, transducin γ, RAB28, RPGR, AIPL1, PDE6D, REP-1).
- Discussion of MVK mutations and their hypothesized impact on prenyl group availability.
Main Results:
- Several retinal proteins essential for phototransduction and transport are dependent on prenylation.
- Mutations in prenylation-related proteins like AIPL1, PDE6D, and REP-1 are linked to IRDs.
- MVK deficiency is newly associated with non-syndromic retinitis pigmentosa, suggesting a broader impact on retinal prenylation.
Conclusions:
- Prenylation defects represent a significant group of causes for progressive retinal degeneration.
- MVK deficiency may lead to widespread prenylation issues in the retina due to prenyl moiety depletion.
- Understanding these defects is crucial for diagnosing and potentially treating inherited retinal diseases.
Related Concept Videos
01:20Inborn Errors of Metabolism
1.1K
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
1.1K
01:20The Retinoblastoma Gene
3.7K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
3.7K
01:20The Retinoblastoma Gene
2.1K
2.1K
01:27Diabetic Retinopathy
55
DefinitionDiabetic retinopathy is a microvascular complication of diabetes affecting the retinal blood vessels.Risk FactorsDiabetic retinopathy is present in almost all individuals with type 1 diabetes and more than 60% of those with type 2 diabetes after two decades of disease.The risk increases with poor glycemic control, hypertension, dyslipidemia, smoking, pregnancy, and puberty.Although cataracts and glaucoma are also more frequent in people with diabetes, retinopathy remains the leading...
55
02:18Alternative RNA Splicing
20.5K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
20.5K
01:31Translation
16.8K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
Translation Produces the Building Blocks of Life
Proteins are...
16.8K