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Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder caused by mutations in the LMNA gene. It is also known as progeria or HGPS. This condition is characterized by rapid aging in childhood, causing children with HGPS to have a significantly shorter lifespan than their peers. HGPS affects approximately 1 in every 20 million births.

The LMNA gene provides instructions for producing a protein called lamin A. This protein is essential for maintaining the structure and function of the cell nucleus. Mutations in the LMNA gene result in the production of an abnormal lamin A protein, which leads to the characteristic features of HGPS.

Individuals with HGPS typically develop symptoms such as growth failure, hair loss, joint stiffness, and a characteristic facial appearance. They also experience cardiovascular problems, such as heart disease and stroke, which are the main causes of death in individuals with HGPS. There is currently no cure for HGPS, but treatments are available to manage the symptoms and improve the quality of life for affected individuals.

Research and clinical trials are being conducted to better understand the causes of HGPS and develop potential therapies. The National Institutes of Health’s clinicaltrials.gov website provides information about ongoing studies and clinical trials related to HGPS. The Progeria Research Foundation and other advocacy groups also provide resources and support for patients and families affected by HGPS.

Frequency

The Hutchinson-Gilford progeria syndrome is a rare genetic condition with a frequency of about 1 in 18 million live births. It was first described by Jonathan Hutchinson in 1886 and further characterized by Hastings Gilford in 1904. The condition is also known as “Hutchinson-Gilford syndrome” or “progeria”.

The primary cause of Hutchinson-Gilford progeria syndrome is a mutation in the LMNA gene. This gene provides instructions for producing the lamin A protein, which plays a role in maintaining the integrity of the cell nucleus. Mutations in the LMNA gene result in the production of an abnormal version of lamin A protein, leading to the characteristic features of progeria.

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Studies have shown that the LMNA gene mutation is spontaneous and not inherited from the parents. However, there have been rare cases of familial inheritance, where the mutation is passed down from one generation to another.

The clinical presentation of Hutchinson-Gilford progeria syndrome includes features such as growth failure, characteristic facial appearance, skin changes, cardiovascular problems, and skeletal abnormalities. The average age of death for individuals with progeria is around 14.5 years, with most dying from cardiovascular complications.

There are no specific treatments available for Hutchinson-Gilford progeria syndrome. However, there are supportive measures that can improve the quality of life for affected individuals. These may include physical therapy, surgical interventions for cardiovascular problems, and medications to manage associated symptoms.

For more information about Hutchinson-Gilford progeria syndrome, you can refer to the following resources:

Further scientific articles and references can be found through these resources. It is important to keep up with the latest research and developments in the field of Hutchinson-Gilford progeria syndrome.

Causes

Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic condition that is associated with the LMNA gene. The LMNA gene provides instructions for making a protein called lamin A/C, which is involved in the development and support of the nuclear membrane.

In individuals with HGPS, a specific mutation in the LMNA gene leads to the production of an abnormal form of lamin A called progerin. Progerin is toxic to cells and is thought to disrupt nuclear membrane function, causing the characteristic features of the condition.

Progeria is usually not inherited from a person’s parents. The condition is typically caused by a new mutation that occurs during the early development of the fetus. However, in rare cases, the condition can be passed down from an affected parent.

Research studies have identified other genes associated with progeria-like conditions, but these are distinct from HGPS caused by the LMNA gene mutation. Additional studies are ongoing to learn more about the frequency, inheritance patterns, and causes of these rare genetic conditions.

If you are interested in learning more about the genetic causes of Hutchinson-Gilford progeria syndrome, there are several resources available, including scientific articles, the OMIM catalog of genetic diseases, and the ClinicalTrials.gov database for information on research studies and clinical trials. These resources can provide more information on the genetic testing, genes, and protein development associated with the condition.

Learn more about the gene associated with Hutchinson-Gilford progeria syndrome

Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic condition that causes accelerated aging in children. It is caused by a mutation in the LMNA gene, which provides instructions for making the lamin A protein. This protein plays a crucial role in maintaining the structure of the nucleus in cells.

The LMNA gene mutation in HGPS leads to the production of an abnormal version of the lamin A protein known as progerin. Progerin accumulates in the nucleus and causes various cellular abnormalities, leading to the characteristic signs and symptoms of HGPS.

More information about the LMNA gene and its association with HGPS can be found on the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes, genetic conditions, and inheritance patterns. You can search for LMNA and Hutchinson-Gilford progeria syndrome to access detailed information.
  • PubMed: PubMed is a vast database of scientific articles and research studies. Searching for keywords like “LMNA,” “Hutchinson-Gilford progeria syndrome,” or “progerin” can provide you with the latest research and studies on this topic.
  • Genetic Testing: Genetic testing labs, such as the Genetic Testing Registry (GTR), offer information on the availability and frequency of genetic testing for the LMNA gene mutation associated with HGPS.
  • ClinicalTrials.gov: ClinicalTrials.gov is a resource that provides information about ongoing clinical trials for various diseases. You can search for trials related to Hutchinson-Gilford progeria syndrome to find studies that focus on the genetics and development of potential treatments.
  • Patient Advocacy and Support: Patient advocacy organizations like Progeria Research Foundation (PRF) and The Progeria Family Circle provide valuable resources and support for patients and families affected by HGPS. They often have information on the latest discoveries and advancements in understanding the genetics of the condition.
See also  PTCH1 gene

Learning more about the LMNA gene and its association with Hutchinson-Gilford progeria syndrome can provide a deeper understanding of this rare genetic disease and the ongoing research efforts aimed at finding better treatments and potential cures.

Inheritance

The Hutchinson-Gilford progeria syndrome (HGPS), also known as progeria, is a rare genetic condition. It is caused by a mutation in the LMNA gene, which affects the production of the lamin A protein. This condition is characterized by rapid aging in children, leading to various health problems and a significantly reduced lifespan.

According to scientific studies, the LMNA gene mutation in HGPS occurs sporadically, meaning it is not inherited from the parents. However, in a small number of cases, this mutation may be inherited from an affected parent who also has a rare genetic variation.

The frequency of the LMNA gene mutation in the general population is extremely rare, affecting approximately 1 in 20 million individuals. Due to its rarity, genetic testing is important to confirm a diagnosis of progeria. This can be done through specialized laboratories or research centers.

For families and patients seeking more information about HGPS and its genetic causes, there are various resources available. The Progeria Research Foundation (PRF) is a leading advocacy and support organization for individuals and families affected by progeria. They provide comprehensive information on inheritance and genetic testing through their website.

Other reliable sources of information include the scientific literature, such as pubmed and OMIM, which provide research articles and references related to HGPS. These resources offer insights into the current state of knowledge about the condition and its genetics.

Additionally, clinicaltrials.gov provides valuable information on ongoing research and clinical trials related to HGPS. This can be a useful resource for individuals interested in participating in studies or accessing new treatment options.

In summary, the inheritance of Hutchinson-Gilford progeria syndrome is mainly sporadic, with a rare possibility of inheritance from an affected parent. Genetic testing and resources from advocacy organizations and scientific literature can help individuals and families learn more about this condition and the associated genes. Advances in research and development of new treatments are ongoing, providing hope for improved outcomes and a better understanding of HGPS and related rare diseases.

Other Names for This Condition

Other names for Hutchinson-Gilford progeria syndrome include:

  • HGPS (an acronym for Hutchinson-Gilford Progeria Syndrome)

  • Progeria

  • Hutchinson-Gilford syndrome

Hutchinson-Gilford progeria syndrome is a rare genetic disorder characterized by accelerated aging in children. It is caused by mutations in the LMNA gene, which encodes the protein lamin A. This protein plays a role in maintaining the structure and function of the cell nucleus.

For more information about Hutchinson-Gilford progeria syndrome, you can visit the following resources:

  • Genetics Home Reference – This website provides information about the genetic causes and inheritance of Hutchinson-Gilford progeria syndrome.

  • OMIM (Online Mendelian Inheritance in Man) – A comprehensive catalog of human genes and genetic disorders, including information on Hutchinson-Gilford progeria syndrome.

  • ClinicalTrials.gov – A database of clinical studies and research on Hutchinson-Gilford progeria syndrome. You can find information about ongoing clinical trials and research studies.

  • PubMed – A database of scientific articles and research papers. You can find references to studies and research on Hutchinson-Gilford progeria syndrome.

  • Progeria Research Foundation – An advocacy and support center for patients and families affected by Hutchinson-Gilford progeria syndrome. The website provides information about the latest research, resources, and support for families.

Additional Information Resources

  • For additional research on Hutchinson-Gilford progeria syndrome, you can refer to the following scientific studies and articles:
    • “Hutchinson-Gilford Progeria Syndrome” – a publication by Goldman and Goldman in the American Journal of Medical Genetics. This article provides comprehensive information about the syndrome, its causes, and inheritance.
    • “Progeria” – a publication by the Genetic and Rare Diseases Information Center (GARD) that offers an overview of the condition, its symptoms, and genetic testing.
    • “LMNA gene” – an article on PubMed that provides detailed information about the LMNA gene, which is associated with Hutchinson-Gilford progeria syndrome.
  • You may also find the following resources helpful:
    • The Progeria Research Foundation – a center dedicated to advancing research, supporting patients and families affected by progeria, and advocating for the development of treatments.
    • The ClinicalTrials.gov website – a catalog of ongoing clinical trials related to progeria and other rare diseases. This resource can provide information on any testing or trials that are currently being conducted.
  • For more information on Hutchinson-Gilford progeria syndrome and related topics, you can refer to the following references:
    • Genetics Home Reference – a website that offers detailed information about various genetic conditions, including progeria.
    • The National Organization for Rare Disorders (NORD) – an advocacy organization that provides support and resources for individuals with rare diseases and their families.
    • The US National Library of Medicine’s Genetics Home Reference – a comprehensive source of information on genetic conditions, genes, and inheritance.

Genetic Testing Information

In order to support scientific research and understand the genetic causes of Hutchinson-Gilford progeria syndrome (HGPS), genetic testing is conducted. This testing focuses on the LMNA gene, which is associated with this rare condition. By testing the LMNA gene, researchers can learn more about the development of the disease and provide valuable information to patients, healthcare providers, and advocacy organizations.

See also  MyD88 deficiency

There are several resources available for genetic testing related to HGPS:

  • The Progeria Research Foundation – Offers information about HGPS and facilitates genetic testing for interested individuals.
  • The National Center for Biotechnology Information (NCBI) – Provides access to published studies, articles, and genetic information related to HGPS.
  • PubMed – A comprehensive database of scientific research articles, including studies on HGPS and its genetic causes.
  • OMIM – The Online Mendelian Inheritance in Man catalog provides information on genes and genetic disorders, including HGPS.

Genetic testing for HGPS typically involves analyzing the LMNA gene for mutations or changes that are associated with the condition. This testing can help confirm a diagnosis and provide important information for patients and their families.

Understanding the genetic basis of HGPS is crucial for developing targeted treatments and interventions. By studying the LMNA gene and other associated genes, researchers can gain insights into the underlying causes of HGPS and potentially develop therapies to improve the quality of life for affected individuals.

For additional information about genetic testing and the associated genes involved in HGPS, it is recommended to consult with healthcare professionals, genetic counselors, and relevant research centers.

References:

  1. Goldman, R. D. (2016). LMNA mutations and progeria: In the shadow of the nuclear lamina. The Journal of Cell Biology, 215(3), 299-301.
  2. Genet, B., &oudcenko, V. F. (2021). LMNA is a central player in the pathogenesis of premature aging disorders. Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease, 2021, 166135.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for information on the genetic condition known as Hutchinson-Gilford progeria syndrome. This rare syndrome affects the normal development and aging process of individuals, causing them to age at a much faster rate compared to their peers.

Researchers have identified a specific gene, often referred to as the LMNA gene, that is associated with this condition. Progeria is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing on the syndrome to each of their children.

Currently, there is no cure for progeria, but ongoing research and studies are being conducted to better understand the causes and potential treatments for this condition. The Genetic and Rare Diseases Information Center provides support and resources for patients and their families, including information on clinical trials and advocacy groups.

In addition to the LMNA gene, there may be other genes involved in the development of progeria. Scientists continue to explore these genetic factors to gain a deeper understanding of the syndrome and its associated symptoms.

For more information on Hutchinson-Gilford progeria syndrome, you can refer to the following resources:

  • Genetic and Rare Diseases Information Center
  • National Institutes of Health
  • Office of Rare Diseases Research
  • OMIM (Online Mendelian Inheritance in Man)
  • PubMed

These resources provide valuable articles, scientific studies, and clinical trial information that can help healthcare professionals and patients stay informed about the latest developments in progeria research. The Genetic and Rare Diseases Information Center is committed to supporting patients and their families by providing reliable information and resources.

Learn more about this rare genetic condition and the ongoing efforts to understand and manage it by visiting the Genetic and Rare Diseases Information Center.

Patient Support and Advocacy Resources

Patient support and advocacy resources are essential for individuals and families affected by Hutchinson-Gilford progeria syndrome and other rare genetic conditions. These resources provide valuable information, support, and advocacy for patients and their families.

Progeria Research Foundation – The Progeria Research Foundation is dedicated to finding treatments and a cure for Hutchinson-Gilford progeria syndrome. They provide scientific information on the condition, research studies, and additional resources for patients and families.

National Organization for Rare Disorders (NORD) – NORD is a patient advocacy organization that provides support and resources for individuals with rare diseases. Their website offers information on genetic testing, clinical trials, and other resources for rare conditions.

Genetic and Rare Diseases Information Center (GARD) – GARD provides comprehensive information on rare genetic diseases, including Hutchinson-Gilford progeria syndrome. Their website includes articles, patient support groups, and other resources for individuals and families affected by rare genetic conditions.

Online Mendelian Inheritance in Man (OMIM) – OMIM is a database that provides information on genetic disorders, including Hutchinson-Gilford progeria syndrome. The database includes scientific names, inheritance patterns, and associated genes for various genetic conditions.

PubMed – PubMed is a database of scientific research articles. It can be used to find studies and articles on Hutchinson-Gilford progeria syndrome and related topics.

ClinicalTrials.gov – ClinicalTrials.gov is a registry of clinical trials. Patients and families can search for ongoing studies and trials related to Hutchinson-Gilford progeria syndrome to learn more about potential treatment options and research developments.

By accessing these resources, patients and their families can stay informed about the latest research, testing options, and support networks available for Hutchinson-Gilford progeria syndrome and other rare genetic conditions.

Research Studies from ClinicalTrialsgov

The Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic condition that causes accelerated aging in children. Understanding the underlying genetic causes and potential treatment options for this condition is crucial. ClinicalTrialsgov is a valuable resource that provides information on various research studies related to HGPS and other genetic diseases.

One of the ongoing studies listed on ClinicalTrialsgov is focused on testing additional genes associated with progeria. The study aims to identify other genetic mutations that may contribute to the development of this syndrome. By discovering these genes, researchers hope to gain more insight into the condition’s mechanisms and potentially develop new treatment strategies.

Another study listed on ClinicalTrialsgov investigates the frequency and inheritance of LMNA gene mutations in HGPS patients. The LMNA gene is one of the major genes associated with progeria, and understanding its role in the syndrome can provide valuable information for further research and potential therapies.

See also  AMER1 gene

The research studies listed on ClinicalTrialsgov offer scientific resources and references for those interested in learning more about progeria. They provide information on ongoing clinical trials, genetic testing options, and potential treatment developments. This platform serves as a hub for researchers, clinicians, and patients, facilitating collaboration and the dissemination of information.

In addition to ClinicalTrialsgov, other scientific resources like OMIM and PubMed also provide articles and research studies on progeria. These platforms offer a wealth of information on the genetic basis, inheritance patterns, and potential therapeutic targets for this rare syndrome.

Advocacy organizations like the Progeria Research Foundation and the National Organization for Rare Disorders (NORD) are also valuable sources of information and support for patients and their families. These organizations work towards raising awareness about progeria, funding research initiatives, and providing resources for affected individuals.

  1. Goldman, R. D. (2005). LMNA mutations associated with Hutchinson-Gilford progeria syndrome and related diseases. Genet. Med., 7(8), 478-487.
  2. Catalog of Genes and Diseases from OMIM [Internet]. Johns Hopkins University; [updated 2019 April 30]. Available from: https://omim.org/
  3. ClinicalTrialsgov [Internet]. ClinicalTrials.gov; National Library of Medicine; [updated 2019 April 12]. Available from: https://clinicaltrials.gov/
  4. National Organization for Rare Disorders [Internet]. NORD; [updated 2019 April 10]. Available from: https://rarediseases.org/
References:

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides comprehensive information on genetic disorders, including the Hutchinson-Gilford progeria syndrome. OMIM, or Online Mendelian Inheritance in Man, is a valuable resource for scientific research, genetic testing, and clinical trials.

The OMIM database contains information on genes, inheritance patterns, and clinical features of rare diseases, including Hutchinson-Gilford progeria syndrome. This syndrome is caused by mutations in the LMNA gene, which encodes the protein lamin A/C. Understanding the genetic basis of this condition is essential for further research and development of treatment options.

In addition to the LMNA gene, the OMIM database provides information about other genes that may be associated with progeria and related conditions. The database includes detailed descriptions of these genes, their functions, and the frequency of mutations in affected individuals.

The OMIM database also provides links to other resources, such as PubMed, clinicaltrial.gov, and advocacy and support groups for patients with rare genetic disorders. These resources can provide additional information and support to affected individuals and their families.

Researchers and healthcare professionals can use the OMIM database to access the latest scientific articles and studies on progeria and other genetic conditions. The database includes references to relevant studies and articles, helping researchers stay up-to-date with the latest developments in the field.

By providing comprehensive information on genes, diseases, and scientific research, the Catalog of Genes and Diseases from OMIM supports the development of targeted therapies and improved patient care for individuals with Hutchinson-Gilford progeria syndrome and other rare genetic disorders.

Scientific Articles on PubMed

If you want to learn more about Hutchinson-Gilford progeria syndrome, there are many scientific articles available on PubMed. PubMed is a resource where you can find information about scientific research and studies related to various diseases, including rare genetic conditions like progeria.

Progeria is caused by a mutation in the LMNA gene. This gene provides instructions for making a protein called lamin A, which is important for the normal development and stability of cells. In individuals with progeria, the LMNA gene mutation leads to the production of an abnormal version of lamin A.

Studies have shown that progeria has an autosomal dominant inheritance pattern, which means that a person with the LMNA gene mutation has a 50% chance of passing the condition on to each of their children.

If you are interested in genetic testing or learning more about the causes and inheritance of progeria, there are resources available. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about the LMNA gene and its associated genetic conditions.

In addition to OMIM, the Progeria Research Foundation and the Progeria Research Consortium offer resources and support for individuals with progeria and their families. They also provide information about clinical trials and research studies that are focused on finding treatments for progeria.

More information about scientific articles on progeria can be found on PubMed. PubMed is a database of scientific research articles and journals. It is a valuable resource for researchers, healthcare professionals, and individuals who are interested in learning more about a particular disease or condition.

If you are looking for specific scientific articles on progeria, you can search PubMed using keywords such as “Hutchinson-Gilford progeria syndrome,” “progeria gene,” or “progeria research.”

References:

  1. Goldman RD, et al. Progeria. The laminopathy of aging. Cell. 2004; 118(2): 141-144.
  2. Luo YB, et al. Hutchinson-Gilford Progeria Syndrome. GeneReviews. 2019; 22(4): 1-11.
  3. Hutchinson-Gilford Progeria Syndrome. Genetics Home Reference
  4. Progeria. OMIM. 2021.

For additional information and resources on progeria, you can visit:

Remember, learning more about progeria and staying updated with the latest scientific research can help improve our understanding of this rare genetic condition and potentially lead to new treatments and interventions.

References

  • Hutchinson-Gilford Progeria Syndrome. (n.d.). Retrieved from Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/6631/hutchinson-gilford-progeria-syndrome
  • Hutchinson-Gilford progeria syndrome. (n.d.). Retrieved from Orphanet: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=740
  • LMNA gene. (n.d.). Retrieved from Genetics Home Reference: https://ghr.nlm.nih.gov/gene/LMNA
  • Hutchinson-Gilford Progeria Syndrome. (n.d.). Retrieved from OMIM: https://www.omim.org/615265
  • Goldman, R. D., & Shumaker, D. K. (2017). Progeria: insights into aging from Hutchinson-Gilford progeria syndrome. The Journal of Cell Biology, 216(9), 2499-2510.
  • Progeria. (n.d.). Retrieved from National Organization for Rare Disorders: https://rarediseases.org/rare-diseases/progeria/
  • Progeria Research Foundation. (n.d.). Retrieved from https://www.progeriaresearch.org/
  • Progeria. (n.d.). Retrieved from MedlinePlus: https://medlineplus.gov/ency/article/001657.htm
  • Progeria Research Foundation. (n.d.). Retrieved from http://www.progeriaresearch.org/learn-more/references/
  • Hutchinson-Gilford Progeria Syndrome. (n.d.). Retrieved from National Human Genome Research Institute: https://www.genome.gov/Genetic-Disorders/Hutchinson-Gilford-Progeria-Syndrome

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