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university of tampere: faculty of medicine and life sciences: research: forensic medicine:
Faculty of Medicine and Life SciencesUniversity of TampereFaculty of Medicine and Life Sciences

Pathogenesis and genetics of Alzheimer’s disease

Alzheimer’s disease (AD) is the most common and well-known form of dementia affecting the increasingly elderly population. With no effective treatments and no curative therapies, AD requires research to elucidate the mechanisms behind the disease. Clinical diagnosis of AD involves cognitive testing of patients, however, diagnosis can only be confirmed at postmortem after neuropathological investigation. The golden standard involves measuring the characteristic brain lesions of amyloid beta (Aβ) senile plaques (SP) and neurofibrillary tangles (NFT) consisting of hyperphosphorylated tau (HPτ). To date, the only conclusive risk-increasing allele that has been determined is the APOEε4 allele and whilst many other genes and polymorphisms have been associated with the disease, effects have been small.

In this research project we have studied the occurrence of AD neuropathological hallmarks in our unique autopsy series covering mainly individuals who do not yet have developed AD. We observed that brain changes associated with AD may already begin developing early in middle age, especially among APOE ε4 carriers. A recent and relatively widely accepted/advocated view is that inflammation has an important role in the development of AD. In support of this we have found that CRP as well as USF1 gene variants may modify initial SP formation in the brain and may participate in the slowing down or enhancement of early stage SP. We aim to further characterize to role of genetics in early AD progress by making use of the genome wide analysis of our autopsy cases. As low B-vitamin levels have been recently associated with the risk of AD, we also aim to study the association of B-vitamins, atrophic gastritis and AD neuropathology making use our unique autopsy series comprising also cerebrospinal fluid samples. The present project with a unique approach can lead to a new concept of the pathogenesis of AD as well as new prevention and treatment perspectives.  

Kok E, Haikonen S, Luoto T, Huhtala H, Goebeler S, Haapasalo H, Karhunen PJ. Apolipoprotein E-dependent accumulation of Alzheimer disease-related lesions begins in middle age. Ann Neurol. 2009 Jun;65(6):650-7.

Kok EH, Alanne-Kinnunen M, Isotalo K, Luoto T, Haikonen S, Goebeler S, Perola M, Hurme MA, Haapasalo H, Karhunen PJ. CRP gene variation affects early development of Alzheimer's disease-related plaques. J Neuroinflammation. 2011 Aug 11;8:96.

Isotalo K, Kok EH, Luoto TM, Haikonen S, Haapasalo H, Lehtimäki T, Karhunen PJ. Upstream transcription factor 1 (USF1) polymorphisms associate with Alzheimer's disease-related neuropathological lesions: Tampere Autopsy Study. Brain Pathol. 2012 Nov;22(6):765-75.

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Last update: 21.3.2014 13.50 Muokkaa

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