At the Society for Neuroscience meeting in San Diego in 2001, Peter Davies first presented saitohin, a minigene nested in the tau gene, and his group’s results have since been published (Conrad et al., 2002). However, as is often the case with AD gene hopefuls, Davies’s early indications that the saitohin polymorphism Q7R is associated with Alzheimer’s are proving hard to confirm in case-control studies of other patient samples. In next month’s Journal of Neurological and Neurosurgical Psychiatry, researchers led by Roger Nitsch and Christoph Hock report that they have not found an association between the reported Q7R polymorphism and Alzheimer’s in their combined Swiss/Greek sample of 225 patients and 144 controls (Streffer et al., 2003).

This report follows on the heels of two other negative studies. Last December, the French Study Group on Alzheimer's Disease and Frontotemporal Dementia checked the distribution of the Q7R polymorphism in 499 AD patients, 91 patients with frontotemporal dementia, and 402 controls. These researchers also saw no link to AD, but did detect a trend toward an association between the QQ genotype and frontotemporal dementia, indicating saitohin might be a factor in tauopathies (Verpillat et al., 2002). Last November, British researchers, including Carol Brayne, also reported finding no link between Q7R and Alzheimer’s (Cook et al., 2002).-Gabrielle Strobel.

References:
Conrad C, Vianna C, Freeman M, Davies P. A polymorphic gene nested within an intron of the tau gene: Implications for Alzheimer's disease. Proc Natl Acad Sci U S A. 2002 May 28 ; 99(11):7751-6. Abstract

Streffer JR, Papassotiropoulos A, Kurosinski P, Signorell A, Wollmer MA, Tsolaki M, Iakovidou V, Hörndli F, Bosset J, Götz J, Nitsch RM, Hock C. Saitohin gene is not associated with Alzheimer's disease. J Neurol Neurosurg Psychiatry. 2003 Mar ; 74(3):362-3. Abstract

Verpillat P, Ricard S, Hannequin D, Dubois B, Bou J, Camuzat A, Pradier L, Frebourg T, Brice A, Clerget-Darpoux F, Deleuze JF, Campion D, . Is the saitohin gene involved in neurodegenerative diseases? Ann Neurol. 2002 Dec ; 52(6):829-32. Abstract

Cook L, Brayne CE, Easton D, Evans JG, Xuereb J, Cairns NJ, Rubinsztein DC. No evidence for an association between Saitohin Q7R polymorphism and Alzheimer's disease. Ann Neurol. 2002 Nov ; 52(5):690-1. Abstract

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Comments on Primary Papers for this Article

  1. The discovery of a new gene in the tau gene locus is clearly of interest. Given that the expression patterns of tau and STH are similar to that of tau, it will be of interest to determine whether it is also involved in the regulation of microtubule formation. It is difficult to extrapolate based on little information, but the small size might be consistent with a chaperone or other accessory protein.

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References

Paper Citations

  1. . A polymorphic gene nested within an intron of the tau gene: implications for Alzheimer's disease. Proc Natl Acad Sci U S A. 2002 May 28;99(11):7751-6. PubMed.
  2. . Saitohin gene is not associated with Alzheimer's disease. J Neurol Neurosurg Psychiatry. 2003 Mar;74(3):362-3. PubMed.
  3. . Is the saitohin gene involved in neurodegenerative diseases?. Ann Neurol. 2002 Dec;52(6):829-32. PubMed.
  4. . No evidence for an association between Saitohin Q7R polymorphism and Alzheimer's disease. Ann Neurol. 2002 Nov;52(5):690-1. PubMed.

Further Reading

Papers

  1. . A polymorphic gene nested within an intron of the tau gene: implications for Alzheimer's disease. Proc Natl Acad Sci U S A. 2002 May 28;99(11):7751-6. PubMed.
  2. . Saitohin gene is not associated with Alzheimer's disease. J Neurol Neurosurg Psychiatry. 2003 Mar;74(3):362-3. PubMed.
  3. . Is the saitohin gene involved in neurodegenerative diseases?. Ann Neurol. 2002 Dec;52(6):829-32. PubMed.
  4. . No evidence for an association between Saitohin Q7R polymorphism and Alzheimer's disease. Ann Neurol. 2002 Nov;52(5):690-1. PubMed.

News

  1. The Gene Within a Gene: Could Tau "Junk DNA" Harbor Risk Factor for AD?

Primary Papers

  1. . A polymorphic gene nested within an intron of the tau gene: implications for Alzheimer's disease. Proc Natl Acad Sci U S A. 2002 May 28;99(11):7751-6. PubMed.
  2. . Saitohin gene is not associated with Alzheimer's disease. J Neurol Neurosurg Psychiatry. 2003 Mar;74(3):362-3. PubMed.
  3. . Is the saitohin gene involved in neurodegenerative diseases?. Ann Neurol. 2002 Dec;52(6):829-32. PubMed.
  4. . No evidence for an association between Saitohin Q7R polymorphism and Alzheimer's disease. Ann Neurol. 2002 Nov;52(5):690-1. PubMed.