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In 1942 Waddington observed that phenotype variation among mutant animals is greater than in wild types. Here we update this observation to depict unexpected relationships between phenotype severity and variation. Using a zebrafish mef2ca allelic series representing a range in craniofacial phenotype severity, we tested the straightforward hypothesis that as phenotype severity increases, variation increases. We found that severity and variation were positively correlated, but only to a point. Variation collapsed in the most severe conditions. Mathematically, we found that the best fit for the relationship between severity and variation is a quadratic function. Across both zebrafish craniofacial phenotypes and human genetic disease, wild-type conditions produced low variation, moderate severity was associated with high variation, and conditions of extreme severity resulted in low variation. We propose that the quadratic relationship between severity and variation is a universal principle of biology that until now has not been formally tested.
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http://dx.doi.org/10.1038/s41467-025-63316-2 | DOI Listing |
Mol Biol Rep
September 2025
Cytogenetics and Molecular Genetics Lab, Pathology Unit, Medical Division (BARC Hospital), Bhabha Atomic Research Centre, Anushakti Nagar, Mumbai, India.
Background: Hearing loss (HL) is one of the most common congenital anomalies and is a complex etiologically diverse condition. Molecular genetic characterization of HL remains challenging owing to the high genetic heterogeneity. This study aimed to screen for potential disease-causing genetic variations in a cohort of Indian patients with congenital bilateral severe-to-profound sensorineural HL.
View Article and Find Full Text PDFBackground: Acupuncture is a widely recognized complementary therapy with proven therapeutic benefits; however, concerns regarding patient safety persist due to adverse events ranging from minor complications to severe outcomes like pneumothorax and nerve injury.
Objective: This study aims to identify common adverse events in acupuncture, propose innovative risk mitigation strategies, establish standardized best practices, enhance practitioner training, and examine global disparities in safety protocols.
Design: Comprehensive review of existing literature, clinical case studies, and international safety guidelines.
Front Neurosci
August 2025
Department of Medicine, Georgetown University Medical Center, Washington, DC, United States.
Introduction: Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) and Gulf War Illness (GWI) have similar profiles of pain (nociception), visceral interoception, and tenderness (central sensitization) that may be due to dysfunction of midbrain and medulla descending antinociceptive and antiinteroceptive mechanisms. If so, then dolorimetry, a proxy for tenderness, may be correlated with subjective symptoms. The relationship with fatigue was assessed in Chronic Idiopathic Fatigue (CIF).
View Article and Find Full Text PDFFront Genet
August 2025
Affiliated Hospital of Zunyi Medical University, Zunyi, China.
Background And Objective: Parental chromosomal structural variations (SVs) represent a primary genetic factor contributing to recurrent spontaneous abortion (RSA). Individuals carrying SVs with complex chromosomal rearrangements (CCRs) typically exhibit a normal phenotype but are at an increased risk of miscarriage. Current standard clinical detection methods are insufficient for the identification and interpretation of all SV types, particularly complex and occult SVs, thereby presenting a significant challenge for clinical genetic counseling.
View Article and Find Full Text PDFJ Popul Ther Clin Pharmacol
September 2024
Department of Biology, Howard University, Washington DC 20059, USA.
Developmental Dyslexia (DD) and Attention-deficit/hyperactivity disorder (ADHD) are neurodevelopmental disorders that often coexist and share complex genetic underpinnings. Our case study integrates psychological assessments and whole exome sequencing to explore the genetic basis of DD and ADHD co-occurrence in a single proband (a nine-year-old female born to healthy) from a consanguineous Pakistani family. We present a proband with symptoms of impulsivity, inattention, and severe hyperactive behavior, along with speech impairment and moderate learning disabilities.
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