Common genetic variants may underlie autism spectrum disorder and schizophrenia across human populations, according to a study appearing September 11th in the journal Cell Reports. In line with previous studies in Caucasians, the researchers found that Japanese individuals with autism spectrum disorder and schizophrenia have overlapping copy number variations (CNVs)—inter-individual variations in the number of copies of a particular gene.
“The strength of our study is the systematic head-to-head comparison of pathogenic CNVs and biological pathways between autism spectrum disorder and schizophrenia,” says senior study author Norio Ozaki of Nagoya University Graduate School of Medicine. “Previous studies in Caucasian populations found overlap in pathogenic CNVs between the two disorders, but their analyses were limited to a small number of genes and CNV loci.”
Autism spectrum disorder and schizophrenia have complex inheritance patterns, with multiple genetic and environmental factors influencing disease risk. Available evidence points to genetic overlap between the two clinically distinct disorders. For example, they tend to co-occur at a higher rate than would be expected in the general population, and a large epidemiological study showed that a family history of schizophrenia in first-degree relatives is a risk factor for autism spectrum disorder. In particular, previous studies have revealed that these two disorders are associated with an increased burden of CNVs, and that rare CNVs in specific loci are shared risk factors for both disorders.
Check out this fascinating interview with Professor Bruce Hollis, a pioneer in vitamin D research and an expert on vitamin D deficiency.
DATA: https://www.townsendletter.com/e-lett… Welcome, Professor Bruce Hollis! 0:53 The 2 systems in the body that use vitamin D 2:40 The forms of vitamin D 8:30 The problem with vitamin D research in the United States 15:45 What are normal vitamin D levels? 18:47 Vitamin D and cancer 25:35 Is vitamin D stored in your fat? 27:03 Vitamin D and your arteries 28:44 Vitamin D and lactation 34:11 Vitamin D and magnesium 36:43 Vitamin D toxicity 42:06 How did you begin your research on vitamin D? 49:30 Final thoughts Please join me in welcoming Professor Bruce Hollis! Professor Hollis’ research has provided a new understanding of the importance of vitamin D and its full range of functions. Vitamin D has been understood as an essential nutrient for skeletal integrity and maintaining blood calcium levels. As microbiology and research developed, researchers found that many cells that had nothing to do with the skeleton could respond to vitamin D, including cancer and immune cells. Vitamin D exists in different forms inside the body. When you take a supplement or sunlight hits your skin, you’re dealing with the inactive form of vitamin D. It is then turned into a compound called 25-hydroxy vitamin D, the intermediate form of vitamin D that stays in the blood for weeks. This form is picked up in blood tests but isn’t easily accessible by the tissues that might need it. The final form of vitamin D is one of the most potent hormones, 125 di-hydroxy vitamin D. Vitamin D is converted into the active form in the kidney but can also be converted inside the cells. The vast majority of studies substantiating our information on vitamin D in the U.S. have several problems and have produced inaccurate results. There is also no agreed-upon range on “normal” vitamin D levels—or what levels are considered a vitamin D deficiency. Professor Hollis has conducted research and has seen significant results using vitamin D to prevent birth complications in women in Iran, in patients with low-grade prostate cancer, and in lactation. He also explains the importance of magnesium, a key cofactor for vitamin D metabolism. Professor Hollis wants people to understand that few physicians recommend or acknowledge the benefits of vitamin D because national organizations have yet to properly understand and recognize them. Dr. Eric Berg DC Bio: Dr. Berg, age 59, is a chiropractor who specializes in Healthy Ketosis & Intermittent Fasting. He is the author of the best-selling book The Healthy Keto Plan, and is the Director of Dr. Berg Nutritionals. He no longer practices, but focuses on health education through social media. Follow Me On Social Media: Facebook: https://bit.ly/FB-DrBerg Instagram: https://bit.ly/IG-DrBerg Listen to my podcast: https://bit.ly/drberg-podcast TikTok: https://bit.ly/TikTok-DrBerg Disclaimer: Dr. Eric Berg received his Doctor of Chiropractic degree from Palmer College of Chiropractic in 1988. His use of “doctor” or “Dr.” in relation to himself solely refers to that degree. Dr. Berg is a licensed chiropractor in Virginia, California, and Louisiana, but he no longer practices chiropractic in any state and does not see patients, so he can focus on educating people as a full-time activity, yet he maintains an active license. This video is for general informational purposes only. It should not be used to self-diagnose, and it is not a substitute for a medical exam, cure, treatment, diagnosis, prescription, or recommendation. It does not create a doctor-patient relationship between Dr. Berg and you. You should not make any change in your health regimen or diet before first consulting a physician and obtaining a medical exam, diagnosis, and recommendation. Always seek the advice of a physician or other qualified health provider with any questions you may have regarding a medical condition. #keto #ketodiet #weightloss #ketolifestyle Thanks for watching! I hope this increases your awareness about the importance of vitamin D and addressing vitamin D deficiency. I’ll see you in the next video.
0:00 Welcome, Professor Bruce Hollis! 0:53 The 2 systems in the body that use vitamin D 2:40 The forms of vitamin D 8:30 The problem with vitamin D research in the United States. 15:45 What are normal vitamin D levels? 18:47 Vitamin D and cancer. 25:35 Is vitamin D stored in your fat? 27:03 Vitamin D and your arteries. 28:44 Vitamin D and lactation. 34:11 Vitamin D and magnesium. 36:43 Vitamin D toxicity. 42:06 How did you begin your research on vitamin D? 49:30 Final thoughts.
Please join me in welcoming Professor Bruce Hollis! Professor Hollis’ research has provided a new understanding of the importance of vitamin D and its full range of functions.
Vitamin D has been understood as an essential nutrient for skeletal integrity and maintaining blood calcium levels. As microbiology and research developed, researchers found that many cells that had nothing to do with the skeleton could respond to vitamin D, including cancer and immune cells.
Vitamin D exists in different forms inside the body. When you take a supplement or sunlight hits your skin, you’re dealing with the inactive form of vitamin D. It is then turned into a compound called 25-hydroxy vitamin D, the intermediate form of vitamin D that stays in the blood for weeks. This form is picked up in blood tests but isn’t easily accessible by the tissues that might need it.
Researchers have developed AI-driven evaluation standards to enhance ageing-related interventions, aiming to improve health outcomes and longevity through personalized, reliable recommendations.
Researchers from the Yong Loo Lin School of Medicine at the National University of Singapore (NUS Medicine) and the Institute for Biostatistics and Informatics in Medicine and Aging Research at Rostock University Medical Center in Germany conducted a collaborative study on the use of advanced AI tools, such as Large Language Models (LLMs), to enhance the evaluation of ageing-related interventions and provide personalized recommendations. Their findings were published in the journal Ageing Research Reviews.
Ageing research generates vast amounts of data, making it challenging to assess the safety and effectiveness of interventions like new medications, dietary modifications, or exercise regimens. This study explored how AI can streamline data analysis with greater efficiency and accuracy.
A study from the University of Pittsburgh reveals a surprising link between Alzheimer’s disease and HSV-1. The research shows tau protein may initially protect the brain from the virus but later contribute to damage.
An international study led by the University of Oulu and Oulu University Hospital has identified six genetic regions associated with the inflammation of the eye’s iris, also known as anterior uveitis. The research also uncovered a genetic correlation between anterior uveitis and inflammatory bowel diseases (IBD). These findings contribute to a better understanding of the mechanisms behind anterior uveitis and its connection to common autoimmune diseases.
Each year, approximately 600 Finns are diagnosed with anterior uveitis. This is an intraocular inflammation that can occur at any age but is most common in individuals aged 20–50. Anterior uveitis is known to be associated with several autoimmune diseases, and certain tissue types may also predispose individuals to it. However, the precise mechanisms underlying the disease remain largely unknown, and the root cause often remains unclear.
The aim of the study was to investigate the genetic background of anterior uveitis, a field in which knowledge has been limited. This extensive international collaboration utilized biobank data from Finland, Estonia, and the United Kingdom, enabling comparisons between more than 12,000 patients with anterior uveitis and nearly 1 million controls.
People with shorter telomeres — the protective caps at the ends of their chromosomes — may have a higher risk of developing age-related brain diseases such as stroke, dementia, and late-life depression (typically diagnosed at age 60 or older). This finding comes from a preliminary study set to be presented at the American Stroke Association’s International Stroke Conference 2025, a leading global event for stroke and brain health research, taking place in Los Angeles from February 5–7, 2025.
Telomere length in white blood cells (leukocytes), known as leukocyte telomere length, is a well-established marker of biological aging. As people age, telomeres naturally shorten, reducing their ability to protect chromosomes, which accelerates cellular aging and increases vulnerability to age-related diseases. While telomere length is partly determined by genetics, ancestry, and gender, it is also influenced by lifestyle factors and environmental stressors such as diet, exercise, and pollution.
RNA sequencing has emerged as a powerful tool for detecting various types of cancers and gaining a deeper understanding of tumor biology.
However, many samples used in these analyses are derived from tumor tissues preserved as formalin-fixed paraffin-embedded (FFPE) blocks. While FFPE blocks are excellent for histological examination, they pose significant challenges for molecular analysis due to the potential degradation or crosslinking of genetic material.
This application note describes the use of targeted custom RNA panels to overcome these challenges by enabling the robust and sensitive detection of gene expression profiles from FFPE non-small cell lung cancer samples.
Very interesting paper by Lindley et al. showing that two mRNAs can be spliced together with extremely high efficiency using an optimized ribozyme system, allowing expression of large genes after dual-AAV delivery for treatment of muscular dystrophies. #genetherapy #biotech #synbio
Ribozymes are small catalytic RNA sequences capable of nucleotide-specific self-cleavage found widespread in nature. Ribozyme cleavage generates distinct 2′, 3′-phosphate and 5′-hydroxyl termini that resemble substrates for recently characterized RNA repair pathways in cells. We report that ribozyme cleavage of two separate mRNAs activated their scarless trans-ligation and translation into full-length protein in eukaryotic cells, a process that we named StitchR (for Stitch RNA). Optimization of StitchR activity in mammalian cells resulted in a ~900-fold increase in protein expression that approached levels observed for genes expressed from single vectors. We demonstrate that StitchR can be harnessed for effective dual adeno-associated virus gene therapies to correct muscular dystrophies by restoring large functional muscle proteins to endogenous levels in vivo.
