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Neurogenetics

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neurogenetics
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Ƙaramin ɓangare naGenetics
Gudanarwanneurogeneticist (en) Fassara

Neurogenetics yana nazarin rawar da kwayoyin halitta ke takawa a ci gaba da aiki na tsarin juyayi.Yana la'akari da halaye na jijiyoyi a matsayin nau'ikan (watau bayyanar, wanda za'a iya auna ko a'a, na tsarin kwayar halitta na mutum), kuma yafi dogara ne akan lura cewa tsarin juyayi na mutane, har ma da waɗanda ke cikin jinsin iri ɗaya, bazai zama iri ɗaya ba.Kamar yadda sunan ya nuna, yana jawo fannoni daga duka nazarin kimiyyar kwakwalwa da kwayar halitta, yana mai da hankali musamman kan yadda lambar kwayar halitta da kwayoyin halitta ke ɗauka ke shafar halaye da aka bayyana.Canje-canje a cikin wannan jerin kwayoyin halitta na iya samun tasiri mai yawa akan ingancin rayuwar mutum.Ana nazarin cututtukan jijiyoyi, halayyar da mutuntaka a cikin mahallin neurogenetics.Yankin neurogenetics ya fito ne a tsakiyar zuwa ƙarshen karni na 20 tare da ci gaba da biyo bayan ci gaban da aka samu a cikin fasahar da ke akwai.A halin yanzu, neurogenetics shine cibiyar bincike da yawa ta amfani da fasahar yankewa.

Yankin neurogenetics ya fito ne daga ci gaban da aka samu a cikin ilmin halitta, kwayoyin halitta da kuma sha'awar fahimtar alaƙar da ke tsakanin kwayoyin halitta, halayyar, kwakwalwa, da cututtukan jijiyoyi da cututtuka.Yankin ya fara fadada a cikin shekarun 1960 ta hanyar binciken Seymour Benzer, wanda wasu ke ɗauka a matsayin mahaifin neurogenetics.[1]

Ayyukansa na farko tare da Drosophila ya taimaka wajen bayyana alaƙar da ke tsakanin rhythms da kwayoyin halitta, wanda ya haifar da ƙarin bincike kan wasu halaye.Ya kuma fara gudanar da bincike a cikin neurodegeneration a cikin kwari na 'ya'yan itace a cikin ƙoƙari na gano hanyoyin da za a hana cututtukan jijiyoyi a cikin mutane.Yawancin dabarun da ya yi amfani da su da kuma ƙaddamar da ya zana za su tura filin gaba.[2]

Bincike na farko ya dogara da fassarar kididdiga ta hanyar matakai irin su LOD (logarithm of odds) ƙididdigar ƙididdiga da sauran hanyoyin lura kamar yadda 'yan uwan da suka shafi, wanda ke kallon phenotype da IBD (masanin ta hanyar zuriya).Yawancin cututtukan da aka yi nazari a farkon ciki har da Alzheimer's, Huntington's da amyotrophic lateral sclerosis (ALS) har yanzu suna cibiyar bincike da yawa har zuwa yau.[3] A ƙarshen shekarun 1980 sabbin ci gaba a cikin kwayoyin halitta kamar fasahar DNA mai haɗuwa da juyawa ya ba da damar yin amfani da DNA polymorphisms don gwada haɗin tsakanin DNA da lahani na kwayoyin halitta.Wannan tsari ana kiransa wani lokaci a matsayin bincike na haɗi.[4][5] A cikin shekarun 1990s fasahar ci gaba ta sa nazarin kwayar halitta ya zama mai yiwuwa kuma yana samuwa.Wannan shekaru goma sun ga karuwar da aka samu wajen gano takamaiman rawar da kwayoyin halitta suka taka dangane da cututtukan jijiyoyi.An sami ci gaba a cikin amma ba a iyakance shi ba: Fragile X syndrome, Alzheimer's, Parkinson's, epilepsy da ALS.[6]

Rashin lafiyar jijiyoyi

[gyara sashe | gyara masomin]

Duk da yake an gano asalin kwayar halitta na cututtuka masu sauki da cututtuka daidai, kwayoyin halitta a bayan rikitarwa, cututtukan jijiyoyi har yanzu shine tushen bincike mai gudana.Sabbin ci gaba kamar Nazarin haɗin gwiwar kwayoyin halitta (GWAS) sun kawo sabbin albarkatu masu yawa a cikin fahimta.Tare da wannan sabon bayanin bambancin kwayar halitta a cikin yawan mutane da yiwuwar cututtukan da ke da alaƙa da su za a iya ganewa cikin sauƙi.[7] Cututtukan da ke tattare da jijiyoyi sune wasu cututtukan cututtukani, tare da misalai sune Cutar Alzheimer da Cutar Parkinson.A halin yanzu babu wata jiyya da za a iya amfani da ita wacce a zahiri ta sauya ci gaban cututtukan neurodegenerative; duk da haka, neurogenetics yana fitowa a matsayin filin daya wanda zai iya samar da haɗin kai.Binciken haɗin zai iya haifar da magungunan warkewa, wanda zai iya juyar da lalacewar kwakwalwa.[8]

Nau'o'in cututtukan Neurogenic: Akwai kwayoyin halitta da yawa da ke da alaƙa a cikin yanayi daban-daban na Neurogenetic waɗanda ke da alaƙar a cikin tsarin gado da hanyoyin halittu.Wadannan cututtukan na iya kasancewa daga yanayin kwayar halitta guda ɗaya ta hanyar gado zuwa yanayin kwayar halittar da ke da tasiri daga abubuwan muhalli.

Manyan nau'o'i:

  1. Monogenic Neurogenic Disorders - Waɗannan maye gurbi ne a cikin kwayar halitta guda ɗaya kuma suna bin tsarin gadon Mendelian kamar su autosomal dominant, recessive, da X-linked.Wadannan sune mafi yawan ganewar asali ko gado.[9]

Misalan Mutations sun hada da:

  • SCN1A Canjin da ke haifar da farfajiya [10]
  • Kwayoyin halittar HTT da ke sa sunadarai na Cutar Huntington
  • Kwayar halitta ta SMN1 tana haifar da atrophy na tsokaatrophy na tsoka na kashin baya
  • PMP22, MFN2, da GJB1 duk suna haifar da cutar Charcot-Marie-Tooth [11]

Mechanism: An kafa maye gurbin ta Hanyar: asarar ko samun aiki wanda ke haifar da aikin furotin da aka canza.

Tsarin gado: Tsarin gado ya bambanta da yanayin.

2. Polygenic Neurogenic disorders - Wadannan maye gurbin suna haifar da kwayoyin halitta da yawa da ke aiki tare, sau da yawa tare da gudummawar muhalli. Ba za a iya hango su ba kuma ba sa bin tsari na Mendelian.

Misalan cututtukan haɗarin polygenic:

  • Cutar Alzheimer ta ƙunshi kwafin APOE ε4, [12] wanda shine mafi ƙarfin kwayar halitta a cikin cutar, wanda ke haifar da karuwar yiwuwar bunkasa yanayin.Sauran kwayoyin halitta kamar TREM2 [12] na iya kara haɗari.Halitta kadai ba ta haifar da cutar kai tsaye amma idan aka haɗa su, tasirin su yana hulɗa kuma yana ƙara haɗari ta hanyar shafar aikin kwakwalwa.Suna da polygenic inda haɗarin ke samuwa ta hanyar ƙarin ko tasirin ma'amala na kwayoyin halitta da yawa tare da abubuwan muhalli da epigenetic.[12]

Hanyoyin:: Kwayoyin haɗari, yadda mahalli ke shafar su, wasu kwayoyin halitta waɗanda ke canza tasirin su, da kuma dalilin da ya sa wasu mutane ke samun cutar yayin da wasu ba sa.[13]

Tsarin gado: Gida yana rinjayar kwayoyin halitta da yawa.

3. Neurodevelopment Disorders - Wadannan cututtukan suna bayyana yayin ci gaban kwakwalwa, sau da yawa saboda maye gurbin da ke shafar ci gaban neuronal.[1]- Wadannan cututtukan suna bayyana yayin ci gaban kwakwalwa, sau da yawa saboda maye gurbi da ke shafar ci gaban neuronal.

  1. ↑ "Olympians of Science: A Display of Medals and Awards". California Institute of Technology. Retrieved 5 December 2011.
  2. ↑ "Neurogenetics Pioneer Seymour Benzer Dies". California Institute of Technology. Archived from the original on 20 January 2012. Retrieved 5 December 2011.
  3. ↑ Gershon ES, Goldin LR (1987). "The outlook for linkage research in psychiatric disorders". Journal of Psychiatric Research. 21 (4): 541–50. doi:10.1016/0022-3956(87)90103-8. PMID 3326940.
  4. ↑ Tanzi RE (October 1991). "Genetic linkage studies of human neurodegenerative disorders". Current Opinion in Neurobiology. 1 (3): 455–61. doi:10.1016/0959-4388(91)90069-J. PMID 1840379. S2CID 19732183.
  5. ↑ Greenstein P, Bird TD (September 1994). "Neurogenetics. Triumphs and challenges". The Western Journal of Medicine. 161 (3): 242–5. PMC 1011404. PMID 7975561.
  6. ↑ Tandon PN (September 2000). "The decade of the brain: a brief review". Neurology India. 48 (3): 199–207. PMID 11025621.
  7. ↑ Simón-Sánchez J, Singleton A (November 2008). "Genome-wide association studies in neurological disorders". The Lancet. Neurology. 7 (11): 1067–72. doi:10.1016/S1474-4422(08)70241-2. PMC 2824165. PMID 18940696.
  8. ↑ Kumar A, Cookson MR (June 2011). "Role of LRRK2 kinase dysfunction in Parkinson disease". Expert Reviews in Molecular Medicine. 13 (20). doi:10.1017/S146239941100192X. PMC 4672634. PMID 21676337. Unknown parameter |article-number= ignored (help)
  9. ↑ Long, Chengzu; Amoasii, Leonela; Bassel-Duby, Rhonda; Olson, Eric N. (2016-11-01). "Genome Editing of Monogenic Neuromuscular Diseases: A Systematic Review". JAMA Neurology (in Turanci). 73 (11): 1349–1355. doi:10.1001/jamaneurol.2016.3388. ISSN 2168-6149. PMC 5695221. PMID 27668807.
  10. ↑ Noh, Grace J.; Jane Tavyev Asher, Y.; Graham, John M. (May 2012). "Clinical review of genetic epileptic encephalopathies". European Journal of Medical Genetics (in Turanci). 55 (5): 281–298. doi:10.1016/j.ejmg.2011.12.010. PMC 3590070. PMID 22342633.
  11. ↑ Long, Chengzu; Amoasii, Leonela; Bassel-Duby, Rhonda; Olson, Eric N. (2016-11-01). "Genome Editing of Monogenic Neuromuscular Diseases: A Systematic Review". JAMA Neurology (in Turanci). 73 (11): 1349–1355. doi:10.1001/jamaneurol.2016.3388. ISSN 2168-6149. PMC 5695221. PMID 27668807.
  12. 1 2 3 Guerreiro, Rita; Hardy, John (October 2014). "Genetics of Alzheimer's Disease". Neurotherapeutics (in Turanci). 11 (4): 732–737. doi:10.1007/s13311-014-0295-9. PMC 4362699. PMID 25113539.
  13. ↑ Zheng, Honghua; Cheng, Baoying; Li, Yanfang; Li, Xin; Chen, Xiaofen; Zhang, Yun-wu (2018-11-23). "TREM2 in Alzheimer's Disease: Microglial Survival and Energy Metabolism". Frontiers in Aging Neuroscience (in English). 10. doi:10.3389/fnagi.2018.00395. ISSN 1663-4365. PMC 6265312. PMID 30532704. Unknown parameter |article-number= ignored (help)CS1 maint: unrecognized language (link)