PubMed · 13908550
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von HOLST, von SAINT PAUL. 1962. Electrically controlled behavior.. https://doi.org/10.1038/scientificamerican0362-50
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Genetic variation in behavioral traits allows organisms to respond and adapt to environmental challenges. Genetic variation in behavior is often affected by many genes and thus has a complex genetic basis. Inversions, the reorientation of genes along the chromosome, tightly link genetic variants together because they suppress recombination. Therefore, inversions are believed to have a major impact on phenotypic variation because they combine the effects of multiple genes, which can pleiotropically alter multiple aspects of behavior. This study investigates how the inversion In(2L)t, found in Drosophila melanogaster populations around the world, impacts different aspects of behavior in an environment-sensitive manner. We test the activity, foraging, and startle-induced behavior of flies with different In(2L)t genotypes across sex and temperatures. We observe that Drosophila homozygous for In(2L)t sleep less frequently, spend more time away from a food source, and have a longer duration of startle response. Additionally, the impacts of In(2L)t on aspects of behavior can be sex-specific and are largely consistent across temperatures. Taken together, our research demonstrates that inversions can regulate aspects of behavior, and suggests hypotheses explaining the distribution of In(2L)t across space and time.
Itch is a major symptom of skin disease and remains poorly studied. We have used limb-worn digital accelerometers, and infrared video of patients as a gold standard, on children with atopic dermatitis and control subjects in their own homes at night. Video analysis shows that nocturnal scratching and restlessness are more complex than we first thought, with many movements that potentially damage the skin not conforming to stereotypical scratch movements. Children with atopic dermatitis spent a mean of 46 minutes less time motionless or sleeping at night than control subjects (468 +/- 3 [SEM] vs 422 +/- 37 [SEM], P<.001). Children with atopic dermatitis showed 2 to 3 times as much scratching or restlessness activity as control subjects, with little overlap between groups (P<.01). Scratching and restlessness were highly correlated with each other (0.94, P<.01). Accelerometer scores were highly correlated with video results (rho>0.02, P<.01, for scratching, restlessness, and sleeping time). Individual limb scores were highly correlated with each other (rho approximately 0.87-0.98), suggesting that little information would be lost if only 1 limb was measured. There was little relation between parental assessment of scratch and objective measured scratch. Accelerometers provide a useful and practical way of assessing scratching at night in the patient's own home and could be used as an objective measure of disease activity both in clinical trials and in everyday clinical practice.
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis. It is caused by mutations in the gene encoding the enzyme 7-dehydrocholesterol Delta7-reductase (DHCR7), which catalyzes the final step in cholesterol biosynthesis, usually resulting in cholesterol deficiency. We report a 3.5-year-old girl who has cognition in the low average range and normal behavior, but in whom molecular studies identified two missense mutations in DHCR7: V326L and F284L. She was born at term following an uncomplicated pregnancy and delivery, and presented at 12 days of age with poor feeding, abdominal distention, and jaundice. Colonic biopsy was consistent with Hirschsprung disease. On physical examination she had mild ptosis, a long philtrum, mild micrognathia, a short, upturned nose, and subtle 2,3 syndactyly. Her 7-dehydrocholesterol (7-DHC) level was markedly elevated at 8.7 mg/dl (normal 0.10 +/- 0.05), and her cholesterol level was normal at 61 mg/dl (normal for newborn period 50-80 mg/dl). Karyotype analysis was normal, 46,XX. Breast milk feeding was initiated and continued for 18 months. Cholesterol supplementation was implemented at 100 mg/kg/day at 3 months, which resulted in increased cholesterol levels and reduced dehydrocholesterol levels. Neuropsychological testing has shown functioning in the low average range, between the 14th and 18th centiles when compared to peers. This is markedly higher than most children with SLOS. She has no behavioral problems. MRI and MRS testing of the brain revealed no structural abnormalities. This is in contrast to a recently reported case by Prasad et al. [2002: Am J Med Genet 108:64-68] with a mild phenotype, behavioral problems, and abnormal MRI, who is compound heterozygote for both a null and missense mutation. Our case suggests that patients with severe feeding disorders with or without Hirschprung disease and postnatal onset microcephaly may warrant screening for SLOS.