What Is Progeria (Hutchinson-Gilford Progeria Syndrome — HGPS)?

This post was written with Consensus AI Academic Search Engine – please read our Disclaimer at the end of this article. Hutchinson-Gilford Progeria Syndrome (HGPS), commonly known as progeria, is a rare genetic disorder characterized by accelerated aging in children. It is an autosomal dominant condition, typically caused by a de novo point mutation in the LMNA gene, which encodes the nuclear envelope proteins lamin A and lamin C3 4 6. This mutation leads to the production of an abnormal protein called progerin, which is toxic to cells and results in the premature aging phenotype observed in HGPS3 5.

Genetic Basis

The primary genetic cause of HGPS is a mutation in the LMNA gene, specifically a single nucleotide change that activates a cryptic splice site, resulting in the production of progerin6 7. Progerin is a truncated form of lamin A that remains permanently farnesylated, disrupting normal nuclear architecture and cellular functions2 5. In some cases, mutations in the ZMPSTE24 gene, which is involved in the processing of prelamin A, can also contribute to the HGPS phenotype2 7.

Clinical Features

HGPS is characterized by a range of symptoms that resemble accelerated aging, including growth retardation, loss of subcutaneous fat, alopecia, joint contractures, and cardiovascular complications such as atherosclerosis, which often lead to premature death4 6 9. Despite these severe physical manifestations, cognitive development in individuals with HGPS is typically normal9.

Pathophysiology

The pathophysiology of HGPS involves the accumulation of progerin, which disrupts the nuclear lamina, leading to increased cellular fragility and altered gene expression8. This results in increased apoptosis and impaired tissue regeneration, contributing to the segmental aging pattern observed in HGPS8. The disease primarily affects tissues with high cellular turnover, such as the cardiovascular system, leading to early mortality9.

Current and Emerging Treatments

Currently, there is no cure for HGPS, and treatment focuses on managing symptoms and complications1 3. However, emerging therapeutic strategies, including gene therapy approaches like CRISPR/Cas technology, are being explored to target the underlying genetic mutations and reduce progerin production3 6. These innovative treatments hold promise for improving the quality of life and extending the lifespan of individuals with HGPS1 3.

Conclusion

HGPS is a devastating genetic disorder that provides unique insights into the mechanisms of aging. While significant progress has been made in understanding its genetic and molecular basis, ongoing research is crucial to develop effective therapies that can address the root causes of the disease and improve outcomes for affected individuals.

Disclaimer

The content presented in this blog is generated by Consensus, an AI-powered academic search engine, and is based on publicly available scientific literature. While every effort is made to provide accurate, up-to-date, and well-researched information, the content is intended for informational and educational purposes only. It does not constitute medical advice, diagnosis, or treatment. Always consult a qualified healthcare professional before making any decisions regarding medical conditions, treatments, or medications. The AI system’s analysis may not cover all perspectives, emerging research, or individual cases, and it is not a substitute for professional expertise. Neither the blog publisher nor the developers of the AI-powered search engine are responsible for any actions taken based on the information provided in this content. Use of this information is at your own risk. Citations to the original scientific studies are included for reference, but these studies should be reviewed in full and interpreted with the guidance of a healthcare or research professional.

If you are experiencing a medical emergency, please seek immediate attention from a healthcare provider.