Sandbox GGC2

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Human Hexokinase 1 is also seen to have a function in both innate immunity and inflammation in which the protein acts as a pattern recognition receptor for N-acetyl-D-glucosamine, a hexose present in the peptidoglycan layer of bacterial cell walls. Upon binding to N-acetyl-D-glucosamine, Human Hexokinase 1 dissociates from the mitochondria, which results in the activation of NLRP3 inflammasome <ref>PMID:27374331</ref>.
Human Hexokinase 1 is also seen to have a function in both innate immunity and inflammation in which the protein acts as a pattern recognition receptor for N-acetyl-D-glucosamine, a hexose present in the peptidoglycan layer of bacterial cell walls. Upon binding to N-acetyl-D-glucosamine, Human Hexokinase 1 dissociates from the mitochondria, which results in the activation of NLRP3 inflammasome <ref>PMID:27374331</ref>.
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</StructureSection>
 
== Disease ==
== Disease ==
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Further, diseases of (REWORD THIS) Human Hexokinase can also result in diseases that affect the nervous system. A nervous system disease associated with the protein is neuropathy, '''hereditary motor and sensory, Russe type (HMSNR)''', also known as '''Charcot-Marie-Tooth''' disease. Laboratory studies suggest that this disease is caused by a mutation in a 26 kb range in upstream exons in the Human Hexokinase 1 gene. HMSNR is also autosomal recessive and is usually apparent in the first 10 years of life, characterized by muscular atrophy and impairment in the distal lower limbs. This weakness and atrophy results in those affected by the disease experiencing difficulty walking. HMSNR can later develop into weakness in the distal upper limbs and the proximal lower limbs. It is suspected that this disease is a result of demyelination of the neuronal axon which in turn has negative effects on neuron action potential velocity <ref>PMID:19536174</ref>.
Further, diseases of (REWORD THIS) Human Hexokinase can also result in diseases that affect the nervous system. A nervous system disease associated with the protein is neuropathy, '''hereditary motor and sensory, Russe type (HMSNR)''', also known as '''Charcot-Marie-Tooth''' disease. Laboratory studies suggest that this disease is caused by a mutation in a 26 kb range in upstream exons in the Human Hexokinase 1 gene. HMSNR is also autosomal recessive and is usually apparent in the first 10 years of life, characterized by muscular atrophy and impairment in the distal lower limbs. This weakness and atrophy results in those affected by the disease experiencing difficulty walking. HMSNR can later develop into weakness in the distal upper limbs and the proximal lower limbs. It is suspected that this disease is a result of demyelination of the neuronal axon which in turn has negative effects on neuron action potential velocity <ref>PMID:19536174</ref>.
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</StructureSection>
Another nervous system disease is a '''neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA)'''. This disease is found to primarily impact the brain and is characterized by speech delay, intellectual disability, structural brain abnormalities, and visual impairments. The disease is caused by mutations in the 414 position (G → E), the 418 position (K → E), the 445 position (S → L), and in the 457 position (T → M) <ref>PMID:30778173</ref>.
Another nervous system disease is a '''neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA)'''. This disease is found to primarily impact the brain and is characterized by speech delay, intellectual disability, structural brain abnormalities, and visual impairments. The disease is caused by mutations in the 414 position (G → E), the 418 position (K → E), the 445 position (S → L), and in the 457 position (T → M) <ref>PMID:30778173</ref>.

Revision as of 19:59, 3 March 2021

Contents

1QHA HUMAN HEXOKINASE TYPE I

HUMAN HEXOKINASE TYPE I COMPLEXED WITH ATP ANALOGUE AMP-PNP

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Another nervous system disease is a neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA). This disease is found to primarily impact the brain and is characterized by speech delay, intellectual disability, structural brain abnormalities, and visual impairments. The disease is caused by mutations in the 414 position (G → E), the 418 position (K → E), the 445 position (S → L), and in the 457 position (T → M) [7].

Retinitis pigmentosa is also a disease caused by mutation of the residue in the 847 positions to a Lysine in Human Hexokinase 1. This disease is an autosomal dominant disease. Retinitis pigmentosa is a form of retinal dystrophy and is characterized by retinal pigment deposits. There is also a loss of both the rod and cone photoreceptors in the eye. Patients typically experience visual difficulty in poorly lit environments and loss of the mid-peripheral visual field. As the condition progresses, patients continue to experience deterioration of the visual field [8][9].

Relevance

Structural highlights

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References

  1. ↑ Hanson, R. M., Prilusky, J., Renjian, Z., Nakane, T. and Sussman, J. L. (2013), JSmol and the Next-Generation Web-Based Representation of 3D Molecular Structure as Applied to Proteopedia. Isr. J. Chem., 53:207-216. doi:http://dx.doi.org/10.1002/ijch.201300024
  2. ↑ Herraez A. Biomolecules in the computer: Jmol to the rescue. Biochem Mol Biol Educ. 2006 Jul;34(4):255-61. doi: 10.1002/bmb.2006.494034042644. PMID:21638687 doi:10.1002/bmb.2006.494034042644
  3. ↑ Garfinkel L, Garfinkel D. Magnesium regulation of the glycolytic pathway and the enzymes involved. Magnesium. 1985;4(2-3):60-72. PMID:2931560
  4. ↑ Wolf AJ, Reyes CN, Liang W, Becker C, Shimada K, Wheeler ML, Cho HC, Popescu NI, Coggeshall KM, Arditi M, Underhill DM. Hexokinase Is an Innate Immune Receptor for the Detection of Bacterial Peptidoglycan. Cell. 2016 Jul 28;166(3):624-636. doi: 10.1016/j.cell.2016.05.076. Epub 2016 Jun , 30. PMID:27374331 doi:http://dx.doi.org/10.1016/j.cell.2016.05.076
  5. ↑ Bianchi M, Magnani M. Hexokinase mutations that produce nonspherocytic hemolytic anemia. Blood Cells Mol Dis. 1995;21(1):2-8. doi: 10.1006/bcmd.1995.0002. PMID:7655856 doi:http://dx.doi.org/10.1006/bcmd.1995.0002
  6. ↑ Hantke J, Chandler D, King R, Wanders RJ, Angelicheva D, Tournev I, McNamara E, Kwa M, Guergueltcheva V, Kaneva R, Baas F, Kalaydjieva L. A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR). Eur J Hum Genet. 2009 Dec;17(12):1606-14. doi: 10.1038/ejhg.2009.99. Epub 2009, Jun 17. PMID:19536174 doi:http://dx.doi.org/10.1038/ejhg.2009.99
  7. ↑ Okur V, Cho MT, van Wijk R, van Oirschot B, Picker J, Coury SA, Grange D, Manwaring L, Krantz I, Muraresku CC, Hulick PJ, May H, Pierce E, Place E, Bujakowska K, Telegrafi A, Douglas G, Monaghan KG, Begtrup A, Wilson A, Retterer K, Anyane-Yeboa K, Chung WK. De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet. 2019 Jul;27(7):1081-1089. doi: 10.1038/s41431-019-0366-9. Epub, 2019 Feb 18. PMID:30778173 doi:http://dx.doi.org/10.1038/s41431-019-0366-9
  8. ↑ Sullivan LS, Koboldt DC, Bowne SJ, Lang S, Blanton SH, Cadena E, Avery CE, Lewis RA, Webb-Jones K, Wheaton DH, Birch DG, Coussa R, Ren H, Lopez I, Chakarova C, Koenekoop RK, Garcia CA, Fulton RS, Wilson RK, Weinstock GM, Daiger SP. A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2014 Sep 4;55(11):7147-58. doi: 10.1167/iovs.14-15419. PMID:25190649 doi:http://dx.doi.org/10.1167/iovs.14-15419
  9. ↑ Wang F, Wang Y, Zhang B, Zhao L, Lyubasyuk V, Wang K, Xu M, Li Y, Wu F, Wen C, Bernstein PS, Lin D, Zhu S, Wang H, Zhang K, Chen R. A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2014 Oct 14;55(11):7159-64. doi:, 10.1167/iovs.14-15520. PMID:25316723 doi:http://dx.doi.org/10.1167/iovs.14-15520
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