Molecular genetics of spinal muscular atrophy : contribution of the NAIP gene to clinical severity

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概要

• 論文の詳細を見る

• Spinal muscular atrophy (SMA) is one of the most common autosomal recessivedisorders characterized by degeneration of anterior horn cells in the spinal cord, andleads to progressive muscular weakness and atrophy. At least three SMA-related geneshave been identified: SMN1, NAIP and p44t. We analyzed these genes in 32 SMApatients and found that the SMN1 gene was deleted in 30 of 32 patients (94 %),irrespective of clinical type. The NAIP gene was deleted in 6 patients and its deletionrate was higher in type I patients than that in typeII or III. Further, in type I patientslacking the NAIP gene, deterioration in their respiratory function is more rapid than inthose type I patients retaining the NAIP gene. Since complete p44t deletion wasobserved in only 3 patients, the correlation between the p44t deletion and severity ofSMA remained ambiguous. We concluded that the NAIP deletion was closely related tothe clinical severity of SMA and was a predictive marker of SMA prognosis, while theSMN1 deletion did not correlate with clinical severity.

• 神戸大学の論文

著者

• TAKESHIMA Yasuhiro

  Division of Molecular Medicine, Department of International and Environmental Medical Science

• MATSUO Masafumi

  Division of Molecular Medicine, Department of International and Environmental Medical Science

• Nishio Hisahide

  Division of Public Health, Department of Environmental Health and Safety

• 常石 秀市

  神戸大学医学部附属病院親と子の心療部

• 常石 秀市

  神戸大学医学系研究科

• 常石 秀市

  姫路市総合福祉通園センター

• WADA Hiroko

  Department of Pediatrics, Sakura Ryoikuen Hospital

• Wada Hiroko

  Division Of Pediatrics Department Of Development And Aging Kobe University School Of Medicine

• Sumino K

  Kobe Univ. Graduate School Of Medicine Jpn

• Sumino Kimiaki

  Division Of Public Health Department Of Environmental Health And Safety Kobe University School Of Me

• NAKAMURA Hajime

  Division of Cardiology, Department of Internal Medicine, Kinki University School of Medicine

• Takeshima Yasuhiro

  Division Of Genetics International Center For Medical Research Kobe University School Of Medicine

• TAKADA Satoshi

  Faculty of Health Science, Kobe University School of Medicine

• Takeuchi Atsuko

  Kobe Pharmaceutical University

• Nakamura Hajime

  Hyogo Prefectural Kobe Children's Hospital

• Nakamura Hajime

  Division Of Cardiology Department Of Internal Medicine Kinki University School Of Medicine

• Nishio Hisahide

  Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University

• Nishio Hisahide

  Department Of Pubic Health And Genetic Epidemiology Kobe University Graduate School Of Medicine

• Takada Satoshi

  Faculty Of Health Sciences Kobe University School Of Medicine

• Nakamura H

  Hyogo Prefectural Kobe Children's Hospital

• Akutsu Tomoko

  Division of Pediatrics, Department of Development and Aging Kobe University School of Medicine

• Tsuneishi Syuichi

  Division of Pediatrics, Department of Development and Aging, Kobe University School of Medicine

• Nishio H

  Department Of Public Health Kobe University Graduate School Of Medicine

• Akutsu Tomoko

  Kobe Pharmaceutical University

• Mizutori Masakazu

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• Takada Satoshi

  Faculty Of Health Science Kobe University School Of Medicine

• Matsuo Masafumi

  Division Of Genetics Icmr Kobe University

• Tsuneishi Syuichi

  Division Of Pediatric Neurology And Developmental Neurology Research Unit Department Of Pediatrics U

• Yamasaki Takemi

  Hyogo Prefectural Children's Hospital

• Takada Satoshi

  Division Of Health Sciences Graduate School Of Medicine Kobe University

• Takeshima Y

  Hyogo Prefectural Children's Hospital

• Takeshima Yasuhiro

  神戸大学 医学研究科小児科学

• Nakamura Hajime

  Department Of Development And Aging Faculty Of Medicine Kobe University Graduate School Of Medicine

• Matsuo Masafumi

  Faculty of Health Science, Kobe University School of Medicine

• NISHIO Hisahide

  Division of Epidemiology, Kobe University Graduate School of Medicine

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