scholarly journals Genetic spectrum of neonatal diabetes

2020 ◽  
Vol 23 (2) ◽  
pp. 5-15
Author(s):  
M Kocova
Keyword(s):  
Gene Mutation ◽  
Single Gene ◽  
Genetic Diagnosis ◽  
Neonatal Diabetes ◽  
Genetic Mutations ◽  
Successful Therapy ◽  
Specific Therapy ◽  
Single Gene Mutation

Abstract Neonatal diabetes (ND) appears during the first months of life and is caused by a single gene mutation. It is heterogenous and very different compared to other forms of multi-factorial or polygenic diabetes. Clinically, this form is extremely severe, however, early genetic diagnosis is pivotal for successful therapy. A large palette of genes is demonstrated to be a cause of ND, however, the mechanisms of permanent hyperglycemia are different. This review will give an overview of more frequent genetic mutations causing ND, including the function of the mutated genes and the specific therapy for certain sub-forms.

Synaptic transmission reversibly conditioned by single-gene mutation in Drosophila melanogaster

Nature ◽  
1976 ◽  
Vol 259 (5543) ◽  
pp. 489-491 ◽  
Author(s):  
KAZUO IKEDA ◽  
SEIJI OZAWA ◽  
SUSUMU HAGIWARA
Keyword(s):  
Drosophila Melanogaster ◽  
Synaptic Transmission ◽  
Gene Mutation ◽  
Single Gene ◽  
Single Gene Mutation

scholarly journals Increased Volatile Anesthetic Requirement in Short-sleeping Drosophila  Mutants

2009 ◽  
Vol 110 (2) ◽  
pp. 313-316 ◽  
Author(s):  
Bernd Weber ◽  
Christian Schaper ◽  
Daniel Bushey ◽  
Marko Rohlfs ◽  
Markus Steinfath ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Single Gene ◽  
Volatile Anesthetic ◽  
Volatile Anesthetics ◽  
Wild Type ◽  
Response Curves ◽  
Sleep Behavior ◽  
Single Gene Mutation ◽  
Anesthetic Requirement ◽  
Drosophila Mutants

Background Anesthesia and sleep share physiologic and behavioral similarities. The anesthetic requirement of the recently identified Drosophila mutant minisleeper and other Drosophila mutants was investigated. Methods Sleep and wakefulness were determined by measuring activity of individual wild-type and mutant flies. Based on the response of the flies at different concentrations of the volatile anesthetics isoflurane and sevoflurane, concentration-response curves were generated and EC50 values were calculated. Results The average amount of daily sleep in wild-type Drosophila (n = 64) was 965 +/- 15 min, and 1,022 +/- 29 in Na[har](P > 0.05; n = 32) (mean +/- SEM, all P compared to wild-type and other shaker alleles). Sh flies slept 584 +/- 13 min (n = 64, P < 0.01), Sh flies 412 +/- 22 min (n = 32, P < 0.01), and Sh flies 782 +/- 25 min (n = 32, P < 0.01). The EC50 values for isoflurane were 0.706 (95% CI 0.649 to 0.764, n = 661) and for sevoflurane 1.298 (1.180 to 1.416, n = 522) in wild-type Drosophila; 1.599 (1.527 to 1.671, n = 308) and 2.329 (2.177 to 2.482, n = 282) in Sh, 1.306 (1.212 to 1.400, n = 393) and 2.013 (1.868 to 2.158, n = 550) in Sh, 0.957 (0.860 to 1.054, n = 297) and 1.619 (1.508 to 1.731, n = 386) in Sh, and 0.6154 (0.581 to 0.649, n = 360; P < 0.05) and 0.9339 (0.823 to 1.041, n = 274) in Na[har], respectively (all P < 0.01). Conclusions A single-gene mutation in Drosophila that causes an extreme reduction in daily sleep is responsible for a significant increase in the requirement of volatile anesthetics. This suggests that a single gene mutation affects both sleep behavior and anesthesia and sedation.

Sign in / Sign up

Export Citation Format

Share Document