Breaking News
December 10, 2018 - People covered by Michigan’s expanded Medicaid program report improvements in health, finds study
December 10, 2018 - Hazelnuts improve micronutrient levels in older adults
December 9, 2018 - History of Partner Violence Tied to Menopause Symptoms
December 9, 2018 - Clean Up Safely After a Disaster|Natural Disasters and Severe Weather
December 9, 2018 - Drug wholesalers drove fentanyl’s deadly rise, report concludes
December 9, 2018 - Deprescribing could help manage polypharmacy in older adults
December 9, 2018 - Retraction of article “Joy of cooking too much” from journal
December 9, 2018 - FDA Warns of Rare Stroke Risk With MS Drug Lemtrada (Alemtuzumab)
December 9, 2018 - Feds say heroin, fentanyl remain biggest drug threat to US
December 9, 2018 - Eliminating microglia can reverse some aspects of stress sensitization, study shows
December 9, 2018 - New genetic insight could help treat rare debilitating heart and lung condition
December 9, 2018 - MiRagen Therapeutics Announces Final Safety, Biodistribution and Clinical Efficacy Data From Phase 1 Cobomarsen Clinical Trial in Patients With Mycosis Fungoides
December 9, 2018 - Work with your doctor to weigh pros, cons of treatment options for hyperthyroidism
December 9, 2018 - CWRU researcher secures $14.6 million funding for genetic study into Alzheimer’s disease
December 9, 2018 - High intensity statin treatment and adherence could save more lives
December 9, 2018 - Surgery patients use only 1/4 of prescribed opioids, and prescription size matters
December 9, 2018 - AXT offers Phi Optics upgrade to QPI systems for inverted light microscopes
December 9, 2018 - New booklet could help improve conditions of young pupils with albinism
December 9, 2018 - Few Physicians Work in Practices That Use Telemedicine
December 9, 2018 - Older Adults and Oral Health
December 9, 2018 - Health utility values improve after septorhinoplasty
December 9, 2018 - New EU-funded project provides insight into how the brain develops
December 9, 2018 - Expanded use of tele-emergency services can help strengthen rural hospitals
December 9, 2018 - Infections in the Young May Be Tied to Risk for Mental Illness: Study
December 9, 2018 - Profile: Native Hawaiians and Pacific Islanders
December 9, 2018 - Snoring poses greater cardiac risk to women
December 9, 2018 - Researcher takes further steps in understanding how and why cute aggression occurs
December 9, 2018 - Researchers create new light-activated tools for controlling neurons
December 9, 2018 - Spinal cord injury disrupts the body’s internal clock, study shows
December 9, 2018 - Babies recognize nested structures similar to our grammar
December 9, 2018 - UT Austin researcher receives $2.5 million CZI grant for neurodegenerative disease research
December 9, 2018 - Sleep problems found to be prevalent and increasing among college students
December 9, 2018 - Study reveals why some children are susceptible to the effects of maltreatment
December 9, 2018 - Study investigates influence of different opioids on driving performance
December 9, 2018 - Jazz Pharmaceuticals Announces First Patient Enrolled in Phase 3 Clinical Trial Evaluating JZP-258 for the Treatment of Idiopathic Hypersomnia
December 9, 2018 - Eliminating microglia prevents heightened immune sensitivity after stress
December 9, 2018 - Boys with social difficulties are at greatest risk of early substance use
December 9, 2018 - ‘Wrong’ connective tissue cells linked to worse prognosis in breast cancer patients
December 8, 2018 - Chronic, refractory schizophrenia patients benefit from targeted cognitive training
December 8, 2018 - Advertising in kids’ apps more prevalent than parents may realize
December 8, 2018 - New way to trace the transmission histories of rare genetic diseases
December 8, 2018 - ASH: A+CHP Bests CHOP for Peripheral T-Cell Lymphoma
December 8, 2018 - Results of pediatric genomic epilepsy tests often reclassified
December 8, 2018 - New way of controlling HIV latency to completely eradicate the virus
December 8, 2018 - Phasefocus to showcase the Livecyte 2 at ASCB
December 8, 2018 - KHN’s ‘What the Health?’ Is health spending the next big political issue?
December 8, 2018 - Mussels take in microplastic pollution fibers and flush most of them out again
December 8, 2018 - AHA: How to Stop Smoking … for Good
December 8, 2018 - Scientists overturn odds to make Parkinson’s discovery
December 8, 2018 - Health benefits of producing marula vinegar
December 8, 2018 - Failure of critical cellular energy sensor responsible for CKD progression, study finds
December 8, 2018 - Ethnicity can be reliable indicator of gut microbiota diversity
December 8, 2018 - Safe Sleep for Baby | NIH News in Health
December 8, 2018 - Study looks at ways technology can support nutritional needs of Parkinson’s patients
December 8, 2018 - Infant milk allergy is being overdiagnosed say experts
December 8, 2018 - Graphene may one day be used to test for ALS
December 8, 2018 - Houston Methodist launches real-time website to track flu cases
December 8, 2018 - RedHill Announces Positive Top-Line Results from Confirmatory Phase 3 Study with Talicia for H. pylori Infection
December 8, 2018 - A way to measure obesity and health beyond BMI
December 8, 2018 - New diagnostic tools may help identify breast cancer patients who could benefit from targeted therapies
December 8, 2018 - Duke-NUS researchers highlight possible role of bioaerosol sampling in pandemic surveillance
December 8, 2018 - Study quantifies links between alcohol, drug use and violent deaths
December 8, 2018 - Mothers’ stress levels at conception linked to child’s response to life challenges at age 11
December 8, 2018 - MIT researchers develop antimicrobial peptides from South American wasp’s venom
December 8, 2018 - Obesity prevention among low-income, diverse preschool-aged children and parents
December 8, 2018 - Mount Sinai researcher awarded $2.5 million to advance understanding of neurodegenerative diseases
December 8, 2018 - CZI announces funding for open-source software efforts to improve image analysis in biomedicine
December 8, 2018 - New book encompasses the vast history of reproduction
December 8, 2018 - Low-income women in Texas are not receiving contraception after childbirth, study shows
December 8, 2018 - Study expands knowledge about sexuality and gender gaps in political attitudes
December 8, 2018 - Drug reduces hot flash frequency, improves quality of life in breast cancer survivors
December 8, 2018 - Imaging, Biopsy Often Still Needed After Mastectomy
December 8, 2018 - Physical Activity Guidelines for Americans: 2nd edition
December 8, 2018 - Machine learning can improve chemical toxicity prediction
December 8, 2018 - Researchers explore why and how Mediterranean diet may mitigate cardiovascular risk
December 8, 2018 - Multigene test is a helpful decision making tool in breast cancer treatment, study shows
December 8, 2018 - New EZ-2 centrifugal evaporator to safely remove solvents from cytotoxic drug preparations
December 8, 2018 - UMGCCC uses Gammapod radiotherapy to treat breast cancer patients
December 8, 2018 - Men with inflammatory bowel disease have higher prostate cancer risk
December 8, 2018 - Newly developed molecules may provide more reliable relief for people with autoimmune diseases
Schizophrenia, bipolar disorder risk linked to hidden DNA sequences

Schizophrenia, bipolar disorder risk linked to hidden DNA sequences

image_pdfDownload PDFimage_print

I love it when seemingly disparate concepts converge, shedding light on a medical mystery. Today, for example, developmental biologist David Kingsley, PhD, and his colleagues published a paper in the American Journal of Human Genetics connecting the dots between human evolution, brain development, and our risk of developing schizophrenia or bipolar disorder.

I’ve written here before about Kingsley’s fascinating research into human evolution and the nitty gritty of how we developed some of our most defining traits. Intriguingly, many of our so-called ‘advances’ also have a dark side.

Now he, along with graduate student Janet Song and former postdoctoral scholar Craig Lowe, PhD, has uncovered a previously hidden stretch of DNA found only in humans that is linked to psychiatric disorders.

As I wrote in our article:

Song and Lowe didn’t start out intending to study psychiatric disorders. Instead, Kingsley and his colleagues have long been interested in identifying regions of the human genome that differ from those of our closest animal relatives such as primates. Studying these regions is a way to trace evolutionary changes that confer some of our uniquely human traits.

But many of these seeming advances, such as walking upright or changing jaws and teeth to accommodate different foods or larger brains, come at a cost. New styles of walking and new diets in humans have brought with them a high incidence of bad backs, sore knees, and impacted wisdom teeth. Some researchers have wondered whether the rapid evolution of our large, complex brains could also be the reason why humans suffer some psychiatric disorders that don’t appear to afflict members of other species.

In their quest to identify differences between the human genome and that of our closest animal kin, Kingsley and his colleagues discovered that humans have a DNA sequence of 30 nucleotides that is repeated from 100 to as many as 1000 times (think of the “All work and no play makes Jack a dull boy” scene in the movie “The Shining”). In contrast, chimpanzees sport only one repeat of the sequence.

Similar to the tiny differences introduced in each line of Jack Nicholson’s typographical raving, the number and even the content of these sequences vary among individuals. But because repeated arrays such as these tend to form structures that are difficult to sequence, they had remained largely hidden from previous investigators.

The repeated sequences are found in the middle of a gene called CACNA1C previously shown to be associated with an increased risk for schizophrenia and bipolar disorder. But until now it’s not been possible to pinpoint specific mutations that might be responsible. Kingsley and his colleagues found that some combinations of repeats appeared to protect against the development of the diseases, while others seemed to increase risk.

The finding is particularly exciting because the gene encodes a member of a family of proteins known as calcium channels. These calcium channels are responsible for many critical biological processes, and drugs modulating their function are widely used to treat high blood pressure and cancer.

As Kingsley explained:

Better classification of patients based on their repeat arrays in the CACNA1C gene may help identify the particular patient cohorts most likely to respond to existing calcium channel drugs. The best match between patients and drugs is not known right now, but we do hope that genotype-based drug targeting may lead to improved treatments in the future for these devastating diseases.

Image by Genome Research Limited

Tagged with:

About author

Related Articles