Detection the genetic variation of circadian Rhythm genes and its correlation with sleepiness disorders in kids
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PDF downloads: 19
DOI:
https://doi.org/10.5281/zenodo.15038410Keywords:
Circadian Rhythum Genes, Mental Disorders, Bmal1gene, Clock Gene, Pers Family GenesAbstract
Human health depends on sleep, which is still one of science's biggest mysteries. the circadian
system is regulated the timing, duration and depth of sleep, and the hemostat of sleep. The main cue for the
entrainment of circadian rhythms to the external environment is light, and the functions of SCN is a
pacemaker responsible for this coordination process. The aim of study was find the correlation between
sleepiness disorders and mutation in circadian rhythm genes. in this study we detection of the genetic
variation of the circadian rhythm genes (BMAL1, CLOCK, PER1, PER2 and PER3 gene ) by T-ARMS-PCR,
the Case of study was 60 kids between the age of (2-12) years, divide into two categories the first contain 40
kids with sleepiness disorders while the second contain 20 sample include healthy kids and it have been
considered as control. when we Detection of the genetic variation of the BMAL1 rs3789327 gene by T
ARMS-PCR we found 60% of study samples are have mutant genotype and 35% are hetero-genotype, and
when Detection of the genetic variation of the Clock rs6811520 gene by T-ARMS-PCR we found 92% of
study samples are have mutant genotype and 5% are hetero-genotype, and when Detection of the genetic
variation of the PER2 rs2304672 gene by T-ARMS-PCR we found 75% of study samples are have mutant
genotype and 20% are hetero-genotype, this indicate that three SNPs cause disturbance in circadian rhythm
and this showed strong correlation with sleepiness disorders in kids, while PER1 and PER3 genes was show
less correlation with disturbance in circadian rhythm because the percentage of mutant genotype for PER1
gene was 10% and 5% for hetero-genotype, and the mutant genotype for PER3 gene was 15% and 5% for
hetero-genotype in the sample study. and the Hardy Weinberg equilibrium indicate that the P value for all
genes studied was less than 0.5, this indicate the sample study is unstable and do not submit for the Hardy
Weinberg equilibrium and the impact was environmental.
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References
G. C. Parlak, I. Baris, S. Gul, I. H. Kavakli, "Functional characterization of the CRY2 circadian clock component variant p. Ser420Phe revealed a new degradation pathway for CRY2". Journal of Biological Chemistry., 299(12), 2023.
Hamed, O.M., Al-Taii, R.A., Jankeer, M.H.Biochemical and genetic study in blood of β- thalassaemia children in mosul city, Iraq. Iraqi Journal of ScienceThis link is disabled., 2021, 62(8), pp. 2501–2508
R. Barragán, J. V. Sorlí, O. Coltell, I. Gonzalez-Monje, R. Fernández-Carrión, L. V. Villamil, E. M. Asensio, "Influence of DNA-polymorphisms in selected circadian clock genes on clock gene expression in subjects from the general population and their association with sleep duration". Medicina, 58(9), 1294, 2022.
P. Gršković, P. Korać, "Circadian gene variants in diseases". Genes., 14(9), 1703, 2023.
A. Alachkar, J. Lee, K. Asthana, R. Vakil Monfared, J. Chen, S. Alhassen, P. Baldi, P. "The hidden link between circadian entropy and mental health disorders". Translational psychiatry, 12(1), 281, 2022.
I. Baris, O. Ozcan, I. H. Kavakli, "Single nucleotide polymorphisms (SNPs) in circadian genes: Impact on gene function and phenotype". Advances in protein chemistry and structural biolog., 137, 17-37, 2023.
C. Liu, X. Tang, Z. Gong, W. Zeng, Q. Hou, R. Lu, "Circadian rhythm sleep disorders: genetics, mechanisms, and adverse effects on health". Frontiers in Genetics, 13, 875342, 2022.
A. S. BaHammam, A. Pirzada, "Timing matters: the interplay between early mealtime, circadian rhythms, gene expression, circadian hormones, and metabolism—a narrative review". Clocks & Sleep, 5(3), 507-535, 2023.
R. M. Merrill, "Mental health conditions according to stress and sleep disorders". International journal of environmental research and public health, 19(13), 7957, 2022.
S. Pavithra, A. Aich, A. Chanda, I. F. Zohra, P. Gawade, R. K. Das, "PER2 gene and its association with sleep-related disorders: A review". Physiology & Behavior, 273, 114411, 2024.
Ramadan, Z.J., Hamed, O.M., Khalaf, I.H. DETECTION OF GENETIC VARIATION FOR SOME GENES THAT RELATED WITH RECURRENT SPONTANEOUS ABORTION IN NINEVEH PROVINCE Biochemical and Cellular Archives, 2020, 20(2), pp. 6407–6414
C. Kinoshita,Y. Okamoto, K. Aoyama, T. Nakaki, "MicroRNA: a key player for the interplay of circadian rhythm abnormalities, sleep disorders and neurodegenerative diseases". Clocks & sleep, 2(3), 282-307, 2020.
Hameed, M.A., Hamed, O.M.Detection of P53 suppressor gene mutation in women with breast cancer in Mosul city AIP Conference ProceedingsThis link is disabled., 2023, 2834(1), 020007
N. H. Du, A. B. Arpat, M. De Matos, D. Gatfield, "MicroRNAs shape circadian hepatic gene expression on a transcriptome-wide scale". eLife., 3, e02510, 2014.
Y. J. Na,J. H. Sung, S. C. Lee, Y. J. Lee, Y. J. Choi, W. Y. Park, H. S. Shin, J. H.Kim, "Comprehensive analysis of microRNA-mRNA co-expression in circadian rhythm". Exp. Mol. Med., 41, 638–647, 2005.
F. Faltraco, D. Palm, A. Uzoni, L. Borchert, F. Simon, O. Tucha, J. Thome, "Dopamine adjusts the circadian gene expression of Per2 and Per3 in human dermal fibroblasts from ADHD patients". Journal of Neural Transmission., 128, 1135-1145, 2021.
R. A. Mosig, S. Kojima, "Timing without coding: How do long non-coding RNAs regulate circadian rhythms? ". In Seminars in cell & developmental biology (Vol. 126, pp. 79-86). Academic Press, 2022.
A. Dück, O. Reis, H. Wagner, K. Wunsch, F. Häßler, M. Kölch, H.Oster, "Clock genes profiles as diagnostic tool in (childhood) ADHD—A pilot study". Brain Sciences,, 12(9), 1198, 2022.
C. Kinoshita, Y. Okamoto, K. Aoyama, T. Nakaki, "MicroRNA: a key player for the interplay of circadian rhythm abnormalities, sleep disorders and neurodegenerative diseases". Clocks & sleep., 2(3), 282-307, 2020
J. Haimes, M. Kelley, Dharmacon, Now Part of GE Healthcare, Lafayette, CO, USA. "Demonstration of a ΔΔCq Calculation Method to Compute Thermo Scientific Relative Gene Expression from qPCR Data". Lafayette., CO: Thermo Scientific, 2013.
Z. J. Ramadan, O. M. Hamed, I. H. Khalaf, "Detection of genetic variation for some genes that related with recurrent spontaneous abortion in Nineveh province". Biochemical & Cellular Archives., 20(2)., 2020.
S. T. Chen, K. B. Choo, M. F. Hou, K. T. Yeh, S. J. Kuo, J. G. Chang, "Deregulated expression of the PER1, PER2 and PER3 genes in breast cancers". Carcinogenesis., 26(7), 1241-1246, 2005.
M. Samblas, F. I. Milagro, P.J. A. Gómez-Abellán, Martínez, & M.Garaulet, "Methylation on the circadian gene BMAL1 is associated with the effects of a weight loss intervention on serum lipid levels". Journal of biological rhythms., 31(3), 308-317, 2016.
J. N. G. Gaaib, A. Raziq, K. Salman, & R. Hanon, "Renal tissue toxicity and miRNA 21, miRNA122, and miRNA221 tissue level alterations in rats administered 4-Nitroquinoline". Iraqi Journal of Science, 2914-2923, 2022.
R. H. Salman, M. B. Mortatha & R. R. Nuiaa, "Data Mining Technique for Diagnosing Autism Spectrum Disorder". Iraqi Journal of Science, 5239-5253, 2024.
