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The magnificent quintet of trinucleotid repeat disorders: Spinal and bulbar muscular atrophy, Huntington’s disease, Friedreich ataxia, myotonic dystrophy, and fragile X syndrome

Yıl 2018, Cilt: 4 Sayı: 4, 219 - 224, 03.01.2019

Muhammet Fatih Ekşi Melisa İdil Bilgin Ali Kaan Akyüz Hatice Karaca Oğuz Kaan Bozo Oytun Erbaş

Öz

Apart from cultural and scientific heritage, human beings can also inherit genetic disorders, such as trinucleotide repeat disorders. These disorders, with the genetic accumulation of repeat sequences, may cause disease in following generation and may lead to even more severe diseases in future generations. Although the formation mechanisms of many of these disorders are known, there are no findings on treatment aside from eliminating symptoms. This review will provide a general and up-to-date overview of some of the trinucleotide repeat diseases.

Anahtar Kelimeler

Fragile X syndrome Friedreich ataxia Huntington’s disease myotonic dystrophy spinal and bulbar muscular atrophy

Kaynakça

  • 1. Ersoy N, Pirkevi C. Trinükleotid tekrar hastalıkları ve nörodejenerasyonun moleküler temeli. Parkinson Hast Harek Boz Derg 2004;27:34-62.
  • 2. Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology 1968;18:671-80.
  • 3. Dobyns WB, Filauro A, Tomson BN, Chan AS, Ho AW, Ting NT, et al. Inheritance of most X-linked traits is not dominant or recessive, just X-linked. Am J Med Genet A 2004;129:136-43.
  • 4. Rhodes LE, Freeman BK, Auh S, Kokkinis AD, La Pean A, Chen C, et al. Clinical features of spinal and bulbar muscular atrophy. Brain 2009;132:3242-51.
  • 5. Parboosingh JS, Figlewicz DA, Krizus A, Meininger V, Azad NA, Newmat DS, et al. Spinobulbar muscular atrophy can mimic ALS: the importance of genetic testing in male patients with atypical ALS. Neurology 1997;49:568-72.
  • 6. Sperfeld AD, Karitzky J, Brummer D, Schreiber H, Häussler J, Ludolph AC, et al. X-linked bulbospinal neuronopathy: Kennedy disease. Arch Neurol 2002;59:1921-6.
  • 7. Guidetti D, Sabadini R, Ferlini A, Torrente I. Epidemiological survey of X-linked bulbar and spinal muscular atrophy, or Kennedy disease, in the province of Reggio Emilia, Italy. Eur J Epidemiol 2001;17:587-91.
  • 8. Grunseich C, Rinaldi C, Fischbeck KH. Spinal and bulbar muscular atrophy: pathogenesis and clinical management. Oral Dis 2014;20:6-9.
  • 9. Mariotti C, Castellotti B, Pareyson D, Testa D, Eoli M, Antozzi C, et al. Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families. Neuromuscul Disord 2000;10:391-7.
  • 10. Atsuta N, Watanabe H, Ito M, Banno H, Suzuki K, Katsuno M, et al. Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain. 2006;129:1446-55.
  • 11. Sumner CJ, Fischbeck KH. Jaw drop in Kennedy’s disease. Neurology 2002;59:1471-2.
  • 12. Sinnreich M, Sorenson EJ, Klein CJ. Neurologic course, endocrine dysfunction and triplet repeat size in spinal bulbar muscular atrophy. Can J Neurol Sci 2004;31:378-82.
  • 13. Querin G, Bertolin C, Da Re E, Volpe M, Zara G, Pegoraro E, et al. Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients. J Neurol Neurosurg Psychiatry 2016;87:810-6.
  • 14. Guber RD, Takyar V, Kokkinis A, Fox DA, Alao H, Kats I, et al. Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy. Neurology 2017;89:2481-90.
  • 15. Jokela ME, Udd B. Diagnostic Clinical, Electrodiagnostic and Muscle Pathology Features of Spinal and Bulbar Muscular Atrophy. J Mol Neurosci 2016;58:330-4.
  • 16. Bates G, Tabrizi S, Jones L. Huntington’s disease. 4th ed. Oxford: Oxford University Press; 2014.
  • 17. Tüfekçi MA, Ersoy Tunalı N. Huntington hastalı¤ında toksisite mekanizmaları ve nmdar-aracılı eksitotoksisitede poliaminlerin rolü. Turkiye Klinikleri J Med Sci 2012;32:201-13.
  • 18. Genetic Modifiers of Huntington's Disease (GeM-HD) Consortium. Identification of genetic factors that modify clinical onset of Huntington's disease. Cell 2015;162:516-26.
  • 19. Roos RA. Huntington’s disease: a clinical review. Orphanet J Rare Dis 2010;5:40.
  • 20. Désaméricq G, Youssov K, Charles P, Saleh N, Olivier A, Sherer-Gagou C, et al. Guidelines for clinical pharmacological practices in Huntington's disease. Rev Neurol (Paris) 2016;172:423-432.
  • 21. Singh BK, Vatsa N, Nelson VK, Kumar V, Kumar SS, Mandal SC, et al. Azadiradione Restores Protein Quality Control and Ameliorates the Disease Pathogenesis in a Mouse Model of Huntington’s Disease. Mol Neurobiol 2018;55:6337-6346.
  • 22. Cook A, Giunti P. Friedreich's ataxia: clinical features, pathogenesis and management. Br Med Bull 2017;124:19-30.
  • 23. Koeppen AH. Friedreich's ataxia: pathology, pathogenesis, and molecular genetics. J Neurol Sci 2011;303:1-12.
  • 24. Reetz K, Dogan I, Hohenfeld C, Didszun C, Giunti P, Mariotti C, et al. Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). Neurology 2018;91:917-30.
  • 25. Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB. Consensus clinical management guidelines for Friedreich ataxia. Orphanet J Rare Dis 2014;9:184.
  • 26. Hausse AO, Aggoun Y, Bonnet D, Sidi D, Munnich A, Rötig A, et al. Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. Heart 2002;87:346-9.
  • 27. Jiang H, Mankodi A, Swanson MS, Moxley RT, Thornton CA. Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet 2004;13:3079-88.
  • 28. Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science 1992;255:1253-5.
  • 29. Meola G, Cardani R. Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms. Biochim Biophys Acta 2015;1852:594-606.
  • 30. Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, et al. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J 2000;19:4439-48.
  • 31. Koç F. Erişkinlerde erken dönemde veya selektif olarak solunum yetmezli¤ine neden olan nöromusküler hastalıklar. Arşiv 2007;16:245.
  • 32. Bird TD. Myotonic Dystrophy Type 1. 1999 Sep 17 [updated 2018 Jul 12].
  • 33. Kraan CM, Godler DE, Amor DJ. Epigenetics of fragile X syndrome and fragile X-related disorders. Dev Med Child Neurol 2018 Aug 7.
  • 34. Hall DA, Berry-Kravis E. Fragile X syndrome and fragile X-associated tremor ataxia syndrome. Handb Clin Neurol 2018;147:377-391.
  • 35. Sunamura N, Iwashita S, Enomoto K, Kadoshima T, Isono F. Loss of the fragile X mental retardation protein causes aberrant differentiation in human neural progenitor cells. Sci Rep 2018;8:11585.
  • 36. Zhang F, Kang Y, Wang M, Li Y, Xu T, Yang W, et al. Fragile X mental retardation protein modulates the stability of its m6A-marked messenger RNA targets. Hum Mol Genet 2018;27:3936-3950.

Trinükleotid tekrar hastalıklarının muhteşem beşlisi: Spinal bulbar musküler atrofi, Huntington hastalığı, Friedreich ataksisi, miyotonik distrofi ve fragil X sendromu

Yıl 2018, Cilt: 4 Sayı: 4, 219 - 224, 03.01.2019

Muhammet Fatih Ekşi Melisa İdil Bilgin Ali Kaan Akyüz Hatice Karaca Oğuz Kaan Bozo Oytun Erbaş

Öz

İnsanoğlu kültürel ve bilimsel miraslarının dışında trinükleotid tekrar hastalıklar gibi genetik sorunlarını da miras bırakabilmektedir. Bu bozukluk tekrar dizilerinin birikimiyle birlikte gelecek kuşaklarda hastalıklar oluşturabilmekte ve sonraki kuşaklarda daha ağır tablolara yol açabilmektedir. Birçoğunun oluşum mekanizması bilinse de tedavileri hakkında semptomları gidermek dışında bulunabilmiş bir sonuç mevcut değildir. Bu derlemeyle trinükleotit tekrar hastalıklarının bazılarına genel ve güncel bir bakış sağlanabilecektir.

Anahtar Kelimeler

Fragil X sendromu Friedreich ataksisi Huntington hastalığı miyotonik distrofi spinal bulbar musküler atrofi

Kaynakça

  • 1. Ersoy N, Pirkevi C. Trinükleotid tekrar hastalıkları ve nörodejenerasyonun moleküler temeli. Parkinson Hast Harek Boz Derg 2004;27:34-62.
  • 2. Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology 1968;18:671-80.
  • 3. Dobyns WB, Filauro A, Tomson BN, Chan AS, Ho AW, Ting NT, et al. Inheritance of most X-linked traits is not dominant or recessive, just X-linked. Am J Med Genet A 2004;129:136-43.
  • 4. Rhodes LE, Freeman BK, Auh S, Kokkinis AD, La Pean A, Chen C, et al. Clinical features of spinal and bulbar muscular atrophy. Brain 2009;132:3242-51.
  • 5. Parboosingh JS, Figlewicz DA, Krizus A, Meininger V, Azad NA, Newmat DS, et al. Spinobulbar muscular atrophy can mimic ALS: the importance of genetic testing in male patients with atypical ALS. Neurology 1997;49:568-72.
  • 6. Sperfeld AD, Karitzky J, Brummer D, Schreiber H, Häussler J, Ludolph AC, et al. X-linked bulbospinal neuronopathy: Kennedy disease. Arch Neurol 2002;59:1921-6.
  • 7. Guidetti D, Sabadini R, Ferlini A, Torrente I. Epidemiological survey of X-linked bulbar and spinal muscular atrophy, or Kennedy disease, in the province of Reggio Emilia, Italy. Eur J Epidemiol 2001;17:587-91.
  • 8. Grunseich C, Rinaldi C, Fischbeck KH. Spinal and bulbar muscular atrophy: pathogenesis and clinical management. Oral Dis 2014;20:6-9.
  • 9. Mariotti C, Castellotti B, Pareyson D, Testa D, Eoli M, Antozzi C, et al. Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families. Neuromuscul Disord 2000;10:391-7.
  • 10. Atsuta N, Watanabe H, Ito M, Banno H, Suzuki K, Katsuno M, et al. Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain. 2006;129:1446-55.
  • 11. Sumner CJ, Fischbeck KH. Jaw drop in Kennedy’s disease. Neurology 2002;59:1471-2.
  • 12. Sinnreich M, Sorenson EJ, Klein CJ. Neurologic course, endocrine dysfunction and triplet repeat size in spinal bulbar muscular atrophy. Can J Neurol Sci 2004;31:378-82.
  • 13. Querin G, Bertolin C, Da Re E, Volpe M, Zara G, Pegoraro E, et al. Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients. J Neurol Neurosurg Psychiatry 2016;87:810-6.
  • 14. Guber RD, Takyar V, Kokkinis A, Fox DA, Alao H, Kats I, et al. Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy. Neurology 2017;89:2481-90.
  • 15. Jokela ME, Udd B. Diagnostic Clinical, Electrodiagnostic and Muscle Pathology Features of Spinal and Bulbar Muscular Atrophy. J Mol Neurosci 2016;58:330-4.
  • 16. Bates G, Tabrizi S, Jones L. Huntington’s disease. 4th ed. Oxford: Oxford University Press; 2014.
  • 17. Tüfekçi MA, Ersoy Tunalı N. Huntington hastalı¤ında toksisite mekanizmaları ve nmdar-aracılı eksitotoksisitede poliaminlerin rolü. Turkiye Klinikleri J Med Sci 2012;32:201-13.
  • 18. Genetic Modifiers of Huntington's Disease (GeM-HD) Consortium. Identification of genetic factors that modify clinical onset of Huntington's disease. Cell 2015;162:516-26.
  • 19. Roos RA. Huntington’s disease: a clinical review. Orphanet J Rare Dis 2010;5:40.
  • 20. Désaméricq G, Youssov K, Charles P, Saleh N, Olivier A, Sherer-Gagou C, et al. Guidelines for clinical pharmacological practices in Huntington's disease. Rev Neurol (Paris) 2016;172:423-432.
  • 21. Singh BK, Vatsa N, Nelson VK, Kumar V, Kumar SS, Mandal SC, et al. Azadiradione Restores Protein Quality Control and Ameliorates the Disease Pathogenesis in a Mouse Model of Huntington’s Disease. Mol Neurobiol 2018;55:6337-6346.
  • 22. Cook A, Giunti P. Friedreich's ataxia: clinical features, pathogenesis and management. Br Med Bull 2017;124:19-30.
  • 23. Koeppen AH. Friedreich's ataxia: pathology, pathogenesis, and molecular genetics. J Neurol Sci 2011;303:1-12.
  • 24. Reetz K, Dogan I, Hohenfeld C, Didszun C, Giunti P, Mariotti C, et al. Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). Neurology 2018;91:917-30.
  • 25. Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB. Consensus clinical management guidelines for Friedreich ataxia. Orphanet J Rare Dis 2014;9:184.
  • 26. Hausse AO, Aggoun Y, Bonnet D, Sidi D, Munnich A, Rötig A, et al. Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. Heart 2002;87:346-9.
  • 27. Jiang H, Mankodi A, Swanson MS, Moxley RT, Thornton CA. Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet 2004;13:3079-88.
  • 28. Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science 1992;255:1253-5.
  • 29. Meola G, Cardani R. Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms. Biochim Biophys Acta 2015;1852:594-606.
  • 30. Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, et al. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J 2000;19:4439-48.
  • 31. Koç F. Erişkinlerde erken dönemde veya selektif olarak solunum yetmezli¤ine neden olan nöromusküler hastalıklar. Arşiv 2007;16:245.
  • 32. Bird TD. Myotonic Dystrophy Type 1. 1999 Sep 17 [updated 2018 Jul 12].
  • 33. Kraan CM, Godler DE, Amor DJ. Epigenetics of fragile X syndrome and fragile X-related disorders. Dev Med Child Neurol 2018 Aug 7.
  • 34. Hall DA, Berry-Kravis E. Fragile X syndrome and fragile X-associated tremor ataxia syndrome. Handb Clin Neurol 2018;147:377-391.
  • 35. Sunamura N, Iwashita S, Enomoto K, Kadoshima T, Isono F. Loss of the fragile X mental retardation protein causes aberrant differentiation in human neural progenitor cells. Sci Rep 2018;8:11585.
  • 36. Zhang F, Kang Y, Wang M, Li Y, Xu T, Yang W, et al. Fragile X mental retardation protein modulates the stability of its m6A-marked messenger RNA targets. Hum Mol Genet 2018;27:3936-3950.
Toplam 36 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Sağlık Kurumları Yönetimi
Bölüm Derleme
Yazarlar

Muhammet Fatih Ekşi Bu kişi benim

Melisa İdil Bilgin Bu kişi benim

Ali Kaan Akyüz Bu kişi benim

Hatice Karaca Bu kişi benim

Oğuz Kaan Bozo Bu kişi benim

Oytun Erbaş Bu kişi benim

Yayımlanma Tarihi 3 Ocak 2019
Yayımlandığı Sayı Yıl 2018 Cilt: 4 Sayı: 4

Kaynak Göster

APA Ekşi, M. F., İdil Bilgin, M., Akyüz, A. K., Karaca, H., vd. (2019). Trinükleotid tekrar hastalıklarının muhteşem beşlisi: Spinal bulbar musküler atrofi, Huntington hastalığı, Friedreich ataksisi, miyotonik distrofi ve fragil X sendromu. İstanbul Bilim Üniversitesi Florence Nightingale Tıp Dergisi, 4(4), 219-224.
AMA Ekşi MF, İdil Bilgin M, Akyüz AK, Karaca H, Bozo OK, Erbaş O. Trinükleotid tekrar hastalıklarının muhteşem beşlisi: Spinal bulbar musküler atrofi, Huntington hastalığı, Friedreich ataksisi, miyotonik distrofi ve fragil X sendromu. İstanbul Bilim Üniversitesi Florence Nightingale Tıp Dergisi. Ocak 2019;4(4):219-224.
Chicago Ekşi, Muhammet Fatih, Melisa İdil Bilgin, Ali Kaan Akyüz, Hatice Karaca, Oğuz Kaan Bozo, ve Oytun Erbaş. “Trinükleotid Tekrar hastalıklarının muhteşem beşlisi: Spinal Bulbar musküler Atrofi, Huntington hastalığı, Friedreich Ataksisi, Miyotonik Distrofi Ve Fragil X Sendromu”. İstanbul Bilim Üniversitesi Florence Nightingale Tıp Dergisi 4, sy. 4 (Ocak 2019): 219-24.
EndNote Ekşi MF, İdil Bilgin M, Akyüz AK, Karaca H, Bozo OK, Erbaş O (01 Ocak 2019) Trinükleotid tekrar hastalıklarının muhteşem beşlisi: Spinal bulbar musküler atrofi, Huntington hastalığı, Friedreich ataksisi, miyotonik distrofi ve fragil X sendromu. İstanbul Bilim Üniversitesi Florence Nightingale Tıp Dergisi 4 4 219–224.
IEEE M. F. Ekşi, M. İdil Bilgin, A. K. Akyüz, H. Karaca, O. K. Bozo, ve O. Erbaş, “Trinükleotid tekrar hastalıklarının muhteşem beşlisi: Spinal bulbar musküler atrofi, Huntington hastalığı, Friedreich ataksisi, miyotonik distrofi ve fragil X sendromu”, İstanbul Bilim Üniversitesi Florence Nightingale Tıp Dergisi, c. 4, sy. 4, ss. 219–224, 2019.
ISNAD Ekşi, Muhammet Fatih vd. “Trinükleotid Tekrar hastalıklarının muhteşem beşlisi: Spinal Bulbar musküler Atrofi, Huntington hastalığı, Friedreich Ataksisi, Miyotonik Distrofi Ve Fragil X Sendromu”. İstanbul Bilim Üniversitesi Florence Nightingale Tıp Dergisi 4/4 (Ocak 2019), 219-224.
JAMA Ekşi MF, İdil Bilgin M, Akyüz AK, Karaca H, Bozo OK, Erbaş O. Trinükleotid tekrar hastalıklarının muhteşem beşlisi: Spinal bulbar musküler atrofi, Huntington hastalığı, Friedreich ataksisi, miyotonik distrofi ve fragil X sendromu. İstanbul Bilim Üniversitesi Florence Nightingale Tıp Dergisi. 2019;4:219–224.
MLA Ekşi, Muhammet Fatih vd. “Trinükleotid Tekrar hastalıklarının muhteşem beşlisi: Spinal Bulbar musküler Atrofi, Huntington hastalığı, Friedreich Ataksisi, Miyotonik Distrofi Ve Fragil X Sendromu”. İstanbul Bilim Üniversitesi Florence Nightingale Tıp Dergisi, c. 4, sy. 4, 2019, ss. 219-24.
Vancouver Ekşi MF, İdil Bilgin M, Akyüz AK, Karaca H, Bozo OK, Erbaş O. Trinükleotid tekrar hastalıklarının muhteşem beşlisi: Spinal bulbar musküler atrofi, Huntington hastalığı, Friedreich ataksisi, miyotonik distrofi ve fragil X sendromu. İstanbul Bilim Üniversitesi Florence Nightingale Tıp Dergisi. 2019;4(4):219-24.
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