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A New Perspective On Myositis Subgrouping Using Genetics

In a new study from Karolinska Institutet, the researchers found that combining information from blood markers and genetics reveals distinct subgroups of patients with myositis, which may help to improve disease classification and treatment. The study was published in eBioMedicine.

Myositis is a group of rare autoimmune diseases often characterized by muscle inflammation, but it can also affect different body organs such as the skin, lungs and joints. Myositis can manifest very differently from one patient to another, making it challenging to diagnose, classify and treat effectively.

The study results showed that myositis could be grouped into eight clusters of patients by combining information from blood markers, called autoantibodies, and genetics, specifically genetic variants in the human genome's major histocompatibility complex (MHC) region. These findings suggest that distinct disease mechanisms may be at play in those different subgroups. This novel approach to myositis subgrouping could improve myositis classification and lead to better management of these challenging diseases.

The study included 1,348 patients with myositis from five countries in Europe. The researchers determined the occurrence of 14 myositis-specific or myositis-associated autoantibodies and the genetic variants from the human leucocyte antigen (HLA) genes in the MHC, which are relevant in the immune system. Further, they established a profile of autoantibodies to group the patients and then evaluated whether those subgroups differed in their genetics and clinical manifestations.

The next step is to explore whether those subgroups are clinically meaningful by comparing their clinical outcomes (e.G., disease severity, treatment response, or mortality) and looking at other genetic variants that might be important to elucidate disease mechanisms. Similarly, exploring mechanistic differences between those different subgroups will be relevant.

More information: Valérie Leclair et al, Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies, eBioMedicine (2023). DOI: 10.1016/j.Ebiom.2023.104804

Citation: A new perspective on myositis subgrouping using genetics (2023, September 29) retrieved 29 September 2023 from https://medicalxpress.Com/news/2023-09-perspective-myositis-subgrouping-genetics.Html

This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no part may be reproduced without the written permission. The content is provided for information purposes only.

Genes And Diseases: Unveiling Five Genetically Influenced Diseases

Did you know about these genetically influenced diseases? Genes can influence diseases and it can be transmitted from one generation to another.

Written by saumya pandeyPublished : September 12, 2023 12:00 PM IST

Genes can influence our susceptibility to various diseases. Some conditions are genetically inherited, passing from one generation to the next. Genetic disorders result from mutations or changes in genes, the fundamental units of DNA that carry instructions for cell function and individual traits. You inherit half of your genes from each biological parent, and mutations can occur in one or both parents' genes, increasing the risk of genetic disorders. Genetic disorders can significantly impact an individual's health and well-being. Understanding the different types of genetic disorders and their causes is essential for diagnosis, treatment, and genetic counseling to help individuals and families manage and cope with these conditions. There are three terms to define that beginning from chromosomal disorders that involve abnormalities in the structures that hold genes and DNA within cells, known as chromosomes. They may result in missing or duplicated chromosome material, leading to a range of conditions. Another one is Multifactorial disorders which are influenced by the combination of gene mutations and external factors such as chemical exposures, dietary choices, certain medications, and tobacco or alcohol use. The interplay of genetics and environmental factors contributes to these disorders. The last one is monogenic which originates from mutations in a single gene. These mutations can lead to various inherited conditions, and the severity of the disorder often depends on the specific gene affected.

Some mutations manifest at birth, while others develop later in life. Here are five genetically influenced diseases:

Cystic Fibrosis

This condition arises from a faulty protein that affects cells, tissues, and glands producing mucus and sweat. It primarily impacts the lungs and digestive system, causing airway blockages, breathing difficulties, and recurring infections. Digestive issues can lead to malnutrition.

Huntington's Disease

HD is hereditary due to a genetic mutation in a specific gene. Children of affected parents have a 50% chance of inheriting the mutation. It results in cognitive and psychiatric disorders. Even inheriting one copy of the gene can lead to symptoms.

Sickle Cell Anemia

This inherited blood disorder causes recurring pain, chronic anemia, and infections. Red blood cells become sickle-shaped, impeding oxygen transport. Patients must avoid situations that reduce oxygen levels, like high altitudes or strenuous exercise.

Haemophilia

Hemophilia A and B are severe bleeding disorders due to protein deficiencies (factor VIII and factor IX). Prolonged bleeding episodes occur, irrespective of trauma, with severity depending on factor activity levels. Queen Victoria passed this gene to her descendants.

Hereditary Cancers

Mutations like BRCA1 and BRCA2 substantially raise the risk of breast, ovarian, and other cancers. Those with these mutations face a higher lifetime cancer risk and often develop cancer at a younger age.

Prevention And Management

-Genetic Counseling: Discuss your family history with a healthcare provider to identify potential issues in offspring.

-Genetic Testing: Genetic studies can detect genetic mutations and assess the risk of inheriting diseases. These tests enable proactive measures.

-Regular Check-Ups: Those with a family history of these diseases should undergo regular medical check-ups to detect early changes and prevent complications, especially in cases like breast cancer.

Understanding the genetic factors behind these diseases is crucial for early detection and intervention. Genetic counseling and testing empower individuals to make informed decisions about their healthcare and the health of their offspring, potentially reducing the impact of these inherited conditions.

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Researchers Publish National Guidelines For ALS Genetic Testing, Counseling

Researchers at The Ohio State University Wexner Medical Center and College of Medicine have led the creation of evidence-based consensus guidelines for genetic testing and counseling for patients with amyotrophic lateral sclerosis (ALS), a neurodegenerative disease that affects the cells in the brain and spine.

These evidence-based, consensus guidelines provide clinicians with a framework for the offer of genetic testing and outline the information that should be provided to persons with ALS before and after testing. In addition, the guidelines provide specific recommendations regarding test methods and reporting, thus providing guidance to both clinicians and testing laboratories in navigating the challenges of this technology.

The 35 guideline statements are published online in the journal Annals of Clinical and Translational Neurology, and include the new recommendation that all persons with ALS be offered comprehensive genetic testing. This will facilitate access to genetic diagnosis and gene-targeted therapies, which are now being provided at the Ohio State University Wexner Medical Center ALS/Motor Neuron Disease Multidisciplinary Clinic and Translational Research Program.

ALS—also known as Lou Gehrig's disease for the famous baseball who was forced to retire in 1939 because of the incurable neuromuscular disorder—affects more than 31,000 people in the United States, according to the Centers for Disease Control and Prevention.

Advances in ALS gene discovery, ongoing gene therapy trials, and patient demand have driven increased use of ALS genetic testing.

"Despite this progress, the offer of genetic testing to persons with ALS is not yet 'standard of care' and many people who desire access to genetic testing are not offered it. We developed ALS genetic counseling and testing guidelines to improve and standardize genetic counseling and testing practice among neurologists, genetic counselors or any provider caring for persons with ALS," said corresponding author Jennifer Roggenbuck, MS, CGC a licensed genetic counselor and associate professor in the Division of Human Genetics in the department of Internal Medicine at Ohio State Wexner Medical Center.

Guideline recommendations were drafted and the strength of evidence for each recommendation was assessed to reach consensus among a group of content experts for each guideline statement. In summary, all persons with ALS should be offered single-step genetic testing, consisting of a C9orf72 assay, along with sequencing of SOD1, FUS, and TARDBP, at a minimum.

"Rapid progress in the discovery of ALS-associated genes, and a growing recognition of the genetic basis of clinically sporadic ALS, has opened the door to an era of gene-targeted therapies for persons with ALS. These evidence-based, consensus guidelines will support all stakeholders in the ALS community in navigating benefits and challenges of genetic testing," said co-author Stephen Kolb, MD, Ph.D., professor of neurology and biological chemistry and pharmacology at The Ohio State University College of Medicine.

Genetic counselors in the United States are board certified by the American Board of Genetic Counseling and offer added value in the care of individuals with ALS. While there has been improvement in access to multidisciplinary care clinics worldwide, the majority of people with ALS do not have access to such clinics.

These practice guidelines can be adopted by neurologists in private practice, in academic settings and by other providers such as nurse practitioners and general practitioners when neurologists are not available. These guidelines will also serve these providers when genetic counselors are not available.

"These guidelines reflect current genomic technology, which will evolve along with our scientific understanding of the genetics of ALS. It is expected that genetic associations with ALS and related disorders will continue expand, and with it, the complexity of results that must be communicated," Roggenbuck said. "We view these guidelines as a first step toward a uniform and equitable approach to ALS genetic testing that will require revision periodically as new genetic discoveries and new genetic therapies move forward for people living with ALS.

More information: Jennifer Roggenbuck et al, Evidence‐based consensus guidelines for ALS genetic testing and counseling, Annals of Clinical and Translational Neurology (2023). DOI: 10.1002/acn3.51895

Citation: Researchers publish national guidelines for ALS genetic testing, counseling (2023, September 14) retrieved 29 September 2023 from https://medicalxpress.Com/news/2023-09-publish-national-guidelines-als-genetic.Html

This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no part may be reproduced without the written permission. The content is provided for information purposes only.

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