Daily Archives: 7 July 2024

Individuals with an Uncommon Longevity Mutation Might Also Enjoy Cardiovascular Protection

A study illuminates potential cardiovascular health benefits in individuals affected by a rare condition known as growth hormone receptor deficiency (GHRD) or Laron syndrome.

GHRD is characterised by the body’s impaired ability to utilise its growth hormone, resulting in stunted growth. In mice, this condition has been linked to an unprecedented 40% extension of lifespan and reduced susceptibility to various age-related illnesses. However, the association between GHRD and cardiovascular disease risk in humans has been uncertain until now, leading to speculation that this longevity mutation observed in mice might elevate cardiovascular risk in humans.

Published in Med on April 26, 2024, the study is the culmination of nearly two decades of international collaboration between Valter Longo, a professor of gerontology at the USC Leonard Davis School of Gerontology, and endocrinologist Jaime Guevara-Aguirre of the Universidad San Francisco de Quito, Ecuador.

Over the past twenty years, Longo, Guevara-Aguirre, and their team have investigated the health and ageing processes among individuals with the genetic mutation responsible for GHRD. This rare mutation, identified primarily among Ecuadorians whose ancestors fled Spain during the Inquisition over three centuries ago, results in ineffective growth hormone receptors and a form of dwarfism.

Previous research by the team indicated that while GHRD (Laron syndrome) diminishes growth, it also appears to reduce the risk of several age-related diseases. Despite a higher incidence of obesity among Ecuadorians with GHRD, they demonstrate lower rates of cancer and Type 2 diabetes. Moreover, they exhibit healthier brain function and superior performance on cognitive and memory tests.

For their latest study, researchers assessed cardiovascular function, damage, and risk factors in GHRD subjects and their unaffected relatives. The study involved two phases of data collection conducted in Los Angeles and Ecuador, encompassing 51 participants, including 24 diagnosed with GHRD and 27 control subjects without the condition.

There are some key findings from the study. GHRD subjects exhibited lower blood sugar levels, reduced insulin resistance, and lower blood pressure compared to their unaffected relatives. They displayed smaller heart dimensions and comparable pulse wave velocity (a measure of arterial stiffness) but had thinner carotid arteries compared to the control group.
Despite higher levels of low-density lipoprotein (LDL) cholesterol, GHRD subjects showed a trend towards fewer atherosclerotic plaques in their carotid arteries compared to controls (7% vs 36%).

“These findings suggest that individuals with GHRD may have either normal or improved levels of cardiovascular disease risk factors compared to their unaffected relatives,” commented Longo, senior author of the study. “While the study sample size is limited, when combined with findings from research involving mice and other organisms, these human data provide valuable insights into the health implications of growth hormone receptor deficiency. They also suggest that pharmaceutical treatments or dietary interventions capable of replicating these effects could potentially reduce disease incidence and extend lifespan.”

The study underscores the complex interplay between growth hormone receptor deficiency, metabolic health, and cardiovascular risk, offering new avenues for further research and potential therapeutic strategies to enhance longevity and mitigate age-related diseases.

More information: Jaime Guevara-Aguirre et al, Normal or improved cardiovascular risk factors in IGF-I-deficient adults with growth hormone receptor deficiency, Med. DOI: 10.1016/j.medj.2024.03.022

Journal information: Med Provided by University of Southern California

Guidelines from the Endocrine Society Advocate Vitamin D Intake for Healthy Adults Under 75

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A recent clinical practice guideline from the Endocrine Society has issued crucial recommendations concerning vitamin D intake and testing for healthy adults under 75. The guideline suggests that exceeding the daily recommended allowance of vitamin D, as set by the Institutes of Medicine (IOM), is unlikely to provide additional health benefits for this demographic. Therefore, routine testing for vitamin D levels is deemed unnecessary for these individuals, empowering healthcare professionals to make informed decisions.

However, the guideline highlights specific populations that may benefit significantly from higher vitamin D intake beyond the IOM recommendations. These include children, pregnant individuals, adults over 75 years old, and adults with high-risk prediabetes. The guideline advises considering higher doses of vitamin D supplementation to potentially reduce the risks of various health conditions, instilling a sense of hope and optimism in the potential for improved health outcomes.

Published under the title “Vitamin D for the Prevention of Disease: An Endocrine Society Clinical Practice Guideline,” the document emphasises evidence-based recommendations derived from clinical trials. It underscores the ongoing debate surrounding the relationship between vitamin D supplementation, disease prevention, and optimal blood levels of vitamin D for improved health outcomes, providing a robust and reliable framework for healthcare professionals to follow.

Dr. Marie Demay, chair of the guideline panel and affiliated with Harvard Medical School and Massachusetts General Hospital, explains that the guideline focused on addressing vitamin D requirements for disease prevention in generally healthy populations without specific conditions impairing vitamin D absorption or action. Unless clinically indicated, the guideline stresses routine testing for vitamin D levels in the identified beneficiary groups.

Key recommendations from the guideline include discouraging vitamin D supplementation beyond IOM-recommended levels for healthy adults under 75 while advocating for higher doses in children, pregnant individuals, older adults, and those with prediabetes to mitigate potential specific health risks. The guideline advises against routine testing for 25-hydroxyvitamin D levels across these groups, citing insufficient evidence to establish outcome-specific benefits based on current thresholds.

Despite advancements in understanding vitamin D’s role in health and disease, the guideline acknowledges limitations in existing evidence. Many clinical trials have yet to be specifically designed to assess specific health outcomes related to vitamin D, and participant baseline vitamin D levels have often been within what is considered adequate. Consequently, more supporting data is needed to prevent the guideline from defining precise blood-level thresholds for 25-hydroxyvitamin D adequacy or disease prevention targets.

This comprehensive guideline, published online and scheduled for the August 2024 print issue of The Journal of Clinical Endocrinology & Metabolism (JCEM), provides a robust framework for vitamin D supplementation and testing practices in healthy populations under 75 years old based on currently available evidence and expert consensus from the Endocrine Society.

More information: Marie B Demay et al, Vitamin D for the Prevention of Disease: An Endocrine Society Clinical Practice Guideline, The Journal of Clinical Endocrinology & Metabolism. DOI: 10.1210/clinem/dgae290

Journal information: The Journal of Clinical Endocrinology & Metabolism Provided by The Endocrine Society

Reduced Snoring Risk Associated with Healthy Plant-Based Diet

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A study published in ERJ Open Research reveals that individuals who adhere to a healthy, plant-based diet rich in vegetables, fruits, whole grains, and nuts are less likely to experience obstructive sleep apnoea (OSA). Conversely, those consuming an unhealthy plant-based diet, characterised by refined carbohydrates, sugary drinks, and high-salt foods, face an increased risk of OSA.

OSA is marked by loud snoring, interrupted breathing during sleep, and frequent awakenings, leading to daytime fatigue and heightened risks of conditions such as hypertension, stroke, cardiovascular disease, and type 2 diabetes.

Led by Dr Yohannes Melaku from Flinders University, Australia, the study analysed data from 14,210 participants in the US National Health and Nutrition Examination Survey. Participants reported their dietary intake over 24 hours, which researchers categorised into healthy and unhealthy plant-based diets and diets high in animal products. They also completed questionnaires assessing OSA symptoms.

Results indicated that those consuming diets rich in plant-based foods were 19% less likely to suffer from OSA than those with the lowest plant-based food intake. Conversely, individuals consuming high amounts of unhealthy plant-based foods faced a 22% higher risk of OSA.

Interestingly, the study found varying impacts on OSA risk based on gender, with men showing a stronger correlation between a plant-based diet and reduced OSA risk than women. This highlights the potential for personalised dietary interventions in managing OSA.

Dr Melaku emphasised that the study underscores the role of diet quality in OSA management, suggesting that the anti-inflammatory and antioxidant properties of a healthy plant-based diet may mitigate factors like inflammation and obesity that contribute to OSA risk.

Moving forward, researchers plan to investigate the relationship between ultra-processed foods and OSA risk in the same cohort, as well as explore long-term interactions between diet and OSA risk.

Commenting on the study, Professor Sophia Schiza from the University of Crete, Greece, noted the prevalence of undiagnosed OSA and stressed the importance of dietary modifications alongside other lifestyle changes like smoking cessation, weight management, and physical activity.

The study highlights the potential benefits of adopting a diet rich in vegetables, fruits, and whole grains while minimising intake of unhealthy foods and sugary drinks to manage or prevent OSA. It calls for broader public awareness and support for healthier dietary choices to improve overall health outcomes related to sleep disorders like OSA.

More information: Yohannes Adama Melaku et al, Plant-based and vegetarian diets are associated with reduced obstructive sleep apnoea risk, ERJ Open Research. DOI: 10.1183/23120541.00739-2023

Journal information: ERJ Open Research Provided by European Respiratory Society

Blood test predicts Parkinson’s disease onset seven years before symptoms

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A team led by researchers from UCL and University Medical Center Goettingen has developed a straightforward blood test employing artificial intelligence (AI) to predict Parkinson’s disease up to seven years before symptoms manifest. Parkinson’s disease stands as the fastest-growing neurodegenerative disorder worldwide, affecting nearly 10 million people. This progressive condition results from the degeneration of nerve cells in the substantia nigra region of the brain, responsible for movement control. The loss of these cells impairs dopamine production, driven by the accumulation of alpha-synuclein protein.

Currently, treatment involves dopamine replacement therapy administered after symptoms like tremors, slowed movement, and cognitive issues appear. Early detection holds promise for initiating treatments that could protect dopamine-producing brain cells, potentially slowing or halting disease progression. Professor Kevin Mills, senior author from UCL Great Ormond Street Institute of Child Health, emphasised the importance of diagnosing Parkinson’s before symptom onset to safeguard existing brain cells. The team utilised cutting-edge technology to identify new biomarkers for the disease and developed a test intended for integration into large NHS laboratories within two years, given adequate funding.

Published in Nature Communications, their research demonstrated that a panel of eight blood-based biomarkers, analysed using machine learning, achieved 100% diagnostic accuracy for Parkinson’s. Testing involved 72 patients with Rapid Eye Movement Behaviour Disorder (iRBD), a precursor to synucleinopathies, including Parkinson’s. The AI successfully identified 79% of iRBD patients sharing biomarker profiles with Parkinson’s patients. Over a decade-long follow-up, the AI predictions correlated with clinical outcomes, accurately forecasting Parkinson’s onset up to seven years in advance for 16 patients initially diagnosed with iRBD.

Dr Michael Bartl, co-first author from University Medical Center Goettingen, highlighted the potential of identifying Parkinson’s patients years before symptoms emerge, enabling earlier intervention with potential disease-modifying therapies. The identified biomarkers, linked to inflammation and protein degradation processes, present new avenues for drug development. Co-author Professor Kailash Bhatia, from UCL Queen Square Institute of Neurology, and his team are assessing the test’s precision using samples from high-risk populations, such as individuals with genetic mutations predisposing them to Parkinson’s.

Future efforts aim to simplify the test into a blood spot format, facilitating more accessible sample collection and mail-in testing. Funding from EU Horizon 2020, Parkinson’s UK, NIHR GOSH Biomedical Research Centre, and the Szeben-Peto Foundation supported this groundbreaking research. Professor David Dexter, Director of Research at Parkinson’s UK, hailed the study’s potential to revolutionise Parkinson’s diagnosis with a non-invasive blood test, contrasting it favourably with more invasive lumbar punctures used in current research. Hopefully, this blood-based approach could distinguish Parkinson’s from similar conditions early on, enhancing diagnostic precision and paving the way for timely interventions.

The development of this AI-driven blood test represents a significant advancement in Parkinson’s research, promising earlier diagnosis and potentially transformative treatments. The ongoing validation and future refinements hold promise for widespread clinical application, offering hope to millions affected by this challenging neurodegenerative disease.

More information: Jenny Hällqvist et al, Plasma proteomics identify biomarkers predicting Parkinson’s disease up to 7 years before symptom onset, Nature Communications. DOI: 10.1038/s41467-024-48961-3

Journal information: Nature Communications Provided by University College London