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Mitochondrial Dysfunction and mTOR in Autism Spectrum Disorders

Year 2023, Volume: 15 Issue: 4, 697 - 704, 25.12.2023

Ezgi Selamet Miraç Barış Usta

https://doi.org/10.18863/pgy.1205786
Cited By: 1

Abstract

Autism spectrum disorders (ASD) are neurodevelopmental diseases that manifest themselves at early ages as insufficient social and communicative skills, repetitive sensory-motor behaviors and restricted interests, and peculiar combinations of these traits. Autism prevalence in wealthy nations is currently rising. Due to increasing numbers of diagnosis, studies on the genetic background of autism have gained momentum recently. Especially the research on mitochondrial dysfunction and mammalian target of rapamycin (mTOR) is important in that it might provide a great contribution to the ASD field for new treatment resources. .

Keywords

mTOR mitochondrial dysfunction autism spectrum disorders

References

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  • Bilbo SD, Tsang V (2010) Enduring consequences of maternal obesity for brain inflammation and behavior of offspring. FASEB J, 24:2104-2115.
  • Bliss TVP, Collingridge GL (1993) A synaptic model of memory: Long-term potentiation in the hippocampus. Nature 361:6407.
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  • Johannessen CM, Reczek EE, James MF, Brems H, Legius E, Cichowski K (2005) The NF1 tumor suppressor critically regulates TSC2 and mTOR. Proc Natl Acad Sci U S A, 102:8573-8578.
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  • Robson M, Melymuk L, Csiszar SA, Giang A, Diamond ML, Helm PA (2010) Continuing sources of PCBs: The significance of building sealants. Environ Int, 36:506-513.
  • Rude KM, Keogh CE, Gareau MG (2019) The role of the gut microbiome in mediating neurotoxic outcomes to PCB exposure. Neurotoxicology, 75:30-40.
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  • Sato A (2016) mTOR, a potential target to treat autism spectrum disorder. CNS Neurol Disord Drug Targets, 15:533-543.
  • Schicknick H, Schott B H, Budinger E, Smalla K-H, Riedel A, Seidenbecher CI et al. (2008) Dopaminergic modulation of auditory cortex-dependent memory consolidation through mTOR. Cereb Cortex, 18:2646-2658.
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Otizm Spektrum Bozukluklarında Mitokondriyal Disfonksiyon ve mTOR

Year 2023, Volume: 15 Issue: 4, 697 - 704, 25.12.2023

Ezgi Selamet Miraç Barış Usta

https://doi.org/10.18863/pgy.1205786
Cited By: 1

Abstract

Otizm spektrum bozuklukları (OSB), erken yaşam dönemlerinde kişilerde kendini sosyal iletişim becerilerinde yetersizlik, tekrarlayan sensori-motor davranışların yanı sıra kısıtlanmış ilgi alanları ile karakterize nörogelişimsel hastalıklardır. Otizm spektrum bozukluğunun dünya üzerindeki prevelansı yüksek gelirli ülkelerde artış göstermektedir. Bu artış dolayısıyla otizmin genetik altyapısına yönelik çalışmalar son dönemde hız kazanmıştır. Bu çalışmalardan mitokondriyal disfonksiyon ve mammalian target of rapamycin (mTOR) ilişkili olanları OSB tedavisinde yeni olanaklar sağlamak adına oldukça büyük bir potansiyel teşkil etmektedir.

Keywords

mitokondriyal disfonksiyon otizm mTOR

References

  • Abdulkareem I, Blair M (2013) Phosphatase and tensin homologue deleted on chromosome 10. Niger Med J, 54:79.
  • Al Nabhani Z, Dulauroy S, Lécuyer E, Polomack B, Campagne P, Berard M et al. (2019) Excess calorie intake early in life increases susceptibility to colitis in adulthood. Nat Metab, 1:1101-1109.
  • Amiri A, Cho W, Zhou J, Birnbaum SG, Sinton CM, McKay RM et al. (2012) Pten deletion in adult hippocampal neural stem/progenitor cells causes cellular abnormalities and alters neurogenesis. J Neurosci, 32:5880-5890.
  • Arnold SE, Arvanitakis Z, Macauley-Rambach SL, Koenig AM, Wang H-Y, Ahima RS, Craft S et al. (2018) Brain insulin resistance in type 2 diabetes and Alzheimer disease: concepts and conundrums. Nat Rev Neurol, 14:168-181.
  • Banerjee S, Crouse NR, Emnett RJ, Gianino SM, Gutmann DH (2011) Neurofibromatosis-1 regulates mTOR-mediated astrocyte growth and glioma formation in a TSC/Rheb-independent manner. Proc Natl Acad Sci U S A, 108:15996-16001.
  • Banko JL (2005) The translation repressor 4E-BP2 is critical for eIF4F complex formation, synaptic plasticity, and memory in the hippocampus. J Neurosci, 25:9581-9590.
  • Berdenis van Berlekom A, Kübler R, Hoogeboom JW, Vonk D, Sluijs JA, Pasterkamp RJ et al. (2022) Exposure to the amino acids histidine, lysine, and threonine reduces mTOR activity and affects neurodevelopment in a human cerebral organoid model. Nutrients, 14:2175.
  • Betancur C (2011) Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting. Brain Res, 1380:42-77.
  • Bilbo SD, Tsang V (2010) Enduring consequences of maternal obesity for brain inflammation and behavior of offspring. FASEB J, 24:2104-2115.
  • Bliss TVP, Collingridge GL (1993) A synaptic model of memory: Long-term potentiation in the hippocampus. Nature 361:6407.
  • Borre YE, O’Keeffe GW, Clarke G, Stanton C, Dinan TG, Cryan JF (2014) Microbiota and neurodevelopmental windows: implications for brain disorders. Trends Mol Med, 20:509-518.
  • Calatayud M, Koren O, Collado MC (2019) Maternal microbiome and metabolic health program microbiome development and health of the offspring. Trends Endocrinol Metab, 30:735-744.
  • Castora FJ (2019) Mitochondrial function and abnormalities implicated in the pathogenesis of OSB. Prog Neuropsychopharmacol Biol Psychiatry, 92:83-108.
  • Chalhoub N, Baker SJ (2009) PTEN and the PI3-Kinase pathway in cancer. Annu Rev Pathol, 4:127-150.
  • Costa-Mattioli M, Sossin WS, Klann E, Sonenberg N (2009) Translational control of long-lasting synaptic plasticity and memory. Neuron, 61:10-26.
  • Crino PB, Nathanson KL, Henske EP (2006) The tuberous sclerosis complex. N Engl J Med, 355:1345-1356.
  • Dasgupta B, Yi Y, Chen DY, Weber JD, Gutmann DH (2005) Proteomic analysis reveals hyperactivation of the mammalian target of rapamycin pathway in neurofibromatosis 1–associated human and mouse brain tumors. Cancer Res, 65:2755-2760.
  • Davies D M, de Vries PJ, Johnson SR, McCartney DL, Cox JA, Serra AL et al. (2011) Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: A phase 2 trial. Clin Cancer Res, 17:4071-4081.
  • Di Gesù CM, Matz LM, Buffington SA (2021) Diet-induced dysbiosis of the maternal gut microbiome in early life programming of neurodevelopmental disorders. Neurosci Res, 168:3-19.
  • Ehninger D, Han S, Shilyansky C, Zhou Y, Li W, Kwiatkowski DJ et al (2008) Reversal of learning deficits in a Tsc2+/− mouse model of tuberous sclerosis. Nat Med, 14:843-848.
  • Fernández-González R, Martínez-Carballo E, González-Barreiro C, Rial-Otero R, Simal-Gándara J (2011) Distribution of polychlorinated biphenyls in both products and by-products of a mussel shell incinerator facility. Environ Sci Pollut Res Int, 18:1139-1146.
  • Franz DN, Agricola K, Mays M, Tudor C, Care MM, Holland‐Bouley K et al. (2015) Everolimus for subependymal giant cell astrocytoma: 5‐year final analysis. Ann Neurol, 78:929-938.
  • Garcia-Junco-Clemente P, Golshani P (2014) PTEN. Commun Integr Biol, 7:e28358.
  • Gedik K, Imamoğlu I (2010) An assessment of the spatial distribution of polychlorinated biphenyl contamination in Turkey. CLEAN - Soil, Air, Water, 38:117-128.
  • Gilbert J, Man H-Y (2017) Fundamental elements in autism: From neurogenesis and neurite growth to synaptic plasticity. Front Cell Neurosci, 11:359.
  • Godfrey KM, Reynolds RM, Prescott SL, Nyirenda M, Jaddoe VWv, Eriksson JG et al. (2017) Influence of maternal obesity on the long-term health of offspring. Lancet Diabetes Endocrinol, 5:53-64.
  • Gur TL, Worly BL, Bailey MT (2015) Stress and the commensal microbiota: Importance in parturition and infant neurodevelopment. Front Psychiatry, 6:5.
  • Hay N, Sonenberg N (2004) Upstream and downstream of mTOR. Genes Dev, 18:1926-1945.
  • Henske EP, Jóźwiak S, Kingswood JC, Sampson JR, Thiele EA (2016) Tuberous sclerosis complex. Nat Rev Dis Primers 2:16035.
  • Herrick RF, Lefkowitz DJ, Weymouth GA (2007) Soil contamination from PCB-containing buildings. Environ Health Perspect, 115:173-175.
  • Hodges H, Fealko C, Soares N (2020) Autism spectrum disorder: definition, epidemiology, causes, and clinical evaluation. Transl Pediatr, S55-S65.
  • Hou L (2004) Activation of the phosphoinositide 3-kinase-Akt-mammalian target of rapamycin signaling pathway Is required for metabotropic glutamate receptor-dependent long-term depression. J Neurosci, 24:6352-6361.
  • Hou L, Antion MD, Hu D, Spencer CM, Paylor R, Klann E (2006) Dynamic translational and proteasomal regulation of fragile X mental retardation protein controls mGluR-dependent long-term depression. Neuron, 51:441-454.
  • Huber K M, Roder JC, Bear MF (2001) Chemical induction of mGluR5- and protein synthesis–dependent long-term depression in hippocampal area CA1. J Neurophysiol, 86:321-325.
  • Jamain S, Quach H, Betancur C, Råstam M, Colineaux C, Gillberg IC et al. (2003) Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet, 34:27-29.
  • Jašarević E, Howerton CL, Howard CD, Bale TL (2015a) Alterations in the vaginal microbiome by maternal stress are associated with metabolic reprogramming of the offspring gut and brain. Endocrinology, 156:3265-3276.
  • Jašarević E, Rodgers AB, Bale TL (2015b) A novel role for maternal stress and microbial transmission in early life programming and neurodevelopment. Neurobiol Stress, 1:81-88.
  • Johannessen CM, Reczek EE, James MF, Brems H, Legius E, Cichowski K (2005) The NF1 tumor suppressor critically regulates TSC2 and mTOR. Proc Natl Acad Sci U S A, 102:8573-8578.
  • Keil KP, Miller GW, Chen H, Sethi S, Schmuck MR, Dhakal K et al. (2018) PCB 95 promotes dendritic growth in primary rat hippocampal neurons via mTOR-dependent mechanisms. Arch Toxicol, 92:3163-3173.
  • Kelleher RJ, Bear MF (2008) The autistic neuron: Troubled translation? Cell, 135:401-406.
  • Kim M-S, Kuehn HS, Metcalfe DD, Gilfillan AM (2008) Activation and function of the mTORC1 pathway in mast cells. J Immunol, 180:4586-4595.
  • Kimball SR, Jefferson LS (2001) Regulation of protein synthesis by branched-chain amino acids. Curr Opin Clin Nutr Metab Care, 4:39-43.
  • Klann E, Dever TE (2004) Biochemical mechanisms for translational regulation in synaptic plasticity. Nat Rev Neurosci, 5:931-942.
  • Krueger DA, Care MM, Holland K, Agricola K, Tudor C, Mangeshkar P et al. (2010) Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med, 363:1801-1811.
  • Lee DY, Yeh T-H, Emnett RJ, White CR, Gutmann DH (2010) Neurofibromatosis-1 regulates neuroglial progenitor proliferation and glial differentiation in a brain region-specific manner. Genes Dev, 24:2317-2329.
  • Li Y, Shen M, Stockton ME, Zhao X (2019) Hippocampal deficits in neurodevelopmental disorders. Neurobiol Learn Mem, 165:106945.
  • Lord C, Brugha TS, Charman T, Cusack J, Dumas G, Frazier T et al. (2020) Autism spectrum disorder. Nat Rev Dis Primers, 6:5.
  • Lynch Sv, Pedersen O (2016) The human intestinal microbiome in health and disease. N Engl J Med, 375:2369-2379.
  • Mattson MP, Moehl K, Ghena N, Schmaedick M, Cheng A. (2018) Intermittent metabolic switching, neuroplasticity and brain health. Nat Rev Neurosci, 19:81-94.
  • Molosh Al, Shekhar A (2018) Neurofibromatosis type 1 as a model system to study molecular mechanisms of autism spectrum disorder symptoms. Prog Brain Res 241:37-62.
  • Monirujjaman Md, Ferdouse A (2014) Metabolic and physiological roles of branched-chain amino acids. Advances in Molecular Biology, 2014:1-6.
  • Morris J (2003) Including all children: finding out about the experiences of children with communication and/or cognitive impairments. Child Soc, 17:337-348.
  • Nicoll R A, Malenka RC (1995) Contrasting properties of two forms of long-term potentiation in the hippocampus. Nature, 377:115-118.
  • Nicoll RA, Schmitz D (2005) Synaptic plasticity at hippocampal mossy fibre synapses. Nat Rev Neurosci, 6:863-876.
  • Phillips MC, Dheer R, Santaolalla R, Davies JM, Burgueño J, Lang JK et al. (2018) Intestinal exposure to PCB 153 induces inflammation via the ATM/NEMO pathway. Toxicol Appl Pharmacol, 339:24-33.
  • Rivell A, Mattson MP (2019a) Intergenerational metabolic syndrome and neuronal network hyperexcitability in autism. Trends Neurosci, 42:709-726.
  • Robson M, Melymuk L, Csiszar SA, Giang A, Diamond ML, Helm PA (2010) Continuing sources of PCBs: The significance of building sealants. Environ Int, 36:506-513.
  • Rude KM, Keogh CE, Gareau MG (2019) The role of the gut microbiome in mediating neurotoxic outcomes to PCB exposure. Neurotoxicology, 75:30-40.
  • Sabers CJ, Martin MM, Brunn GJ, Williams JM, Dumont FJ, Wiederrecht G et al. (1995) Isolation of a protein target of the FKBP12-rapamycin complex in mammalian cells. J Biol Chem, 270:815-822.
  • Sato A (2016) mTOR, a potential target to treat autism spectrum disorder. CNS Neurol Disord Drug Targets, 15:533-543.
  • Schicknick H, Schott B H, Budinger E, Smalla K-H, Riedel A, Seidenbecher CI et al. (2008) Dopaminergic modulation of auditory cortex-dependent memory consolidation through mTOR. Cereb Cortex, 18:2646-2658.
  • Slipczuk L, Bekinschtein P, Katche C, Cammarota M, Izquierdo I, Medina JH (2009) BDNF activates mTOR to regulate GluR1 expression required for memory formation. PLoS ONE, 4:e6007.
  • Strużyńska L, Sulkowski G, Dąbrowska-Bouta B (2012) Aroclor 1254 selectively inhibits expression of glial GLT-1 glutamate transporter in the forebrain of chronically exposed adult rat. Toxicology, 300:12-18.
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There are 78 citations in total.

Details

Primary Language English
Subjects Psychiatry
Journal Section Review
Authors

Ezgi Selamet 0000-0001-5189-0224

Miraç Barış Usta 0000-0002-1573-3165

Publication Date December 25, 2023
Acceptance Date April 2, 2023
Published in Issue Year 2023 Volume: 15 Issue: 4

Cite

AMA Selamet E, Usta MB. Mitochondrial Dysfunction and mTOR in Autism Spectrum Disorders. Psikiyatride Güncel Yaklaşımlar - Current Approaches in Psychiatry. December 2023;15(4):697-704. doi:10.18863/pgy.1205786

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