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Erschienen in: Neurological Sciences 8/2019

05.04.2019 | Original Article

KIBRA T allele influences memory performance and progression of cognitive decline: a 7-year follow-up study in subjective cognitive decline and mild cognitive impairment

verfasst von: Salvatore Mazzeo, Valentina Bessi, Sonia Padiglioni, Silvia Bagnoli, Laura Bracco, Sandro Sorbi, Benedetta Nacmias

Erschienen in: Neurological Sciences | Ausgabe 8/2019

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Abstract

KIBRA is a signal transducer protein, mainly expressed in the kidney and brain. A single-nucleotide polymorphism (SNP rs17070145, T → C exchange) has been linked to different cognitive function. In 2008, we studied 70 subjects who complained of subjective cognitive decline (SCD) and found that CT/TT carriers performed worse than CC carriers on a long-term memory test. We followed up the 70 SCD subjects and also 31 subjects affected by mild cognitive impairment (MCI) for a mean follow-up time of 7 years, during which 16 SCD subjects progressed to MCI and 14 MCI subjects progressed to Alzheimer’s disease (AD). Carrying the T allele was associated with MCI and with a two times-higher risk of developing MCI than CC carriers. In the SCD sample, CT/TT carriers showed a greater worsening on Rivermead Behavioral Memory Test (RBMT) compared to CC carriers. In the MCI sample, CT/TT carriers performed worse than CC carriers on RBMT. There is a lack of consensus on the effect of KIBRA gene variants on cognitive performances in episodic memory and on the risk of AD. Our results confirm a role of T allele on progression of cognitive decline.
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Literatur
2.
Zurück zum Zitat Kremerskothen J, Plaas C, Büther K, Finger I, Veltel S, Matanis T, Liedtke T, Barnekow A (2003) Characterization of KIBRA, a novel WW domain-containing protein. Biochem Biophys Res Commun 300:862–867CrossRefPubMed Kremerskothen J, Plaas C, Büther K, Finger I, Veltel S, Matanis T, Liedtke T, Barnekow A (2003) Characterization of KIBRA, a novel WW domain-containing protein. Biochem Biophys Res Commun 300:862–867CrossRefPubMed
4.
Zurück zum Zitat Papassotiropoulos A, Stephan DA, Huentelman MJ, Hoerndli FJ, Craig DW, Pearson JV, Huynh K-D, Brunner F, Corneveaux J, Osborne D, Wollmer MA, Aerni A, Coluccia D, Hänggi J, Mondadori CRA, Buchmann A, Reiman EM, Caselli RJ, Henke K, de Quervain DJ-F (2006) Common Kibra alleles are associated with human memory performance. Science 314:475–478. https://doi.org/10.1126/science.1129837 CrossRefPubMed Papassotiropoulos A, Stephan DA, Huentelman MJ, Hoerndli FJ, Craig DW, Pearson JV, Huynh K-D, Brunner F, Corneveaux J, Osborne D, Wollmer MA, Aerni A, Coluccia D, Hänggi J, Mondadori CRA, Buchmann A, Reiman EM, Caselli RJ, Henke K, de Quervain DJ-F (2006) Common Kibra alleles are associated with human memory performance. Science 314:475–478. https://​doi.​org/​10.​1126/​science.​1129837 CrossRefPubMed
8.
Zurück zum Zitat Yasuda Y, Hashimoto R, Ohi K, Fukumoto M, Takamura H, Iike N, Yoshida T, Hayashi N, Takahashi H, Yamamori H, Morihara T, Tagami S, Okochi M, Tanaka T, Kudo T, Kamino K, Ishii R, Iwase M, Kazui H, Takeda M (2010) Association study of KIBRA gene with memory performance in a Japanese population. World J Biol Psychiatry Off J World Fed Soc Biol Psychiatry 11:852–857. https://doi.org/10.3109/15622971003797258 CrossRef Yasuda Y, Hashimoto R, Ohi K, Fukumoto M, Takamura H, Iike N, Yoshida T, Hayashi N, Takahashi H, Yamamori H, Morihara T, Tagami S, Okochi M, Tanaka T, Kudo T, Kamino K, Ishii R, Iwase M, Kazui H, Takeda M (2010) Association study of KIBRA gene with memory performance in a Japanese population. World J Biol Psychiatry Off J World Fed Soc Biol Psychiatry 11:852–857. https://​doi.​org/​10.​3109/​1562297100379725​8 CrossRef
9.
Zurück zum Zitat Corneveaux JJ, Liang WS, Reiman EM, Webster JA, Myers AJ, Zismann VL, Joshipura KD, Pearson JV, Hu-Lince D, Craig DW, Coon KD, Dunckley T, Bandy D, Lee W, Chen K, Beach TG, Mastroeni D, Grover A, Ravid R, Sando SB, Aasly JO, Heun R, Jessen F, Kölsch H, Rogers J, Hutton ML, Melquist S, Petersen RC, Alexander GE, Caselli RJ, Papassotiropoulos A, Stephan DA, Huentelman MJ (2010) Evidence for an association between KIBRA and late-onset Alzheimer’s disease. Neurobiol Aging 31:901–909. https://doi.org/10.1016/j.neurobiolaging.2008.07.014 CrossRefPubMed Corneveaux JJ, Liang WS, Reiman EM, Webster JA, Myers AJ, Zismann VL, Joshipura KD, Pearson JV, Hu-Lince D, Craig DW, Coon KD, Dunckley T, Bandy D, Lee W, Chen K, Beach TG, Mastroeni D, Grover A, Ravid R, Sando SB, Aasly JO, Heun R, Jessen F, Kölsch H, Rogers J, Hutton ML, Melquist S, Petersen RC, Alexander GE, Caselli RJ, Papassotiropoulos A, Stephan DA, Huentelman MJ (2010) Evidence for an association between KIBRA and late-onset Alzheimer’s disease. Neurobiol Aging 31:901–909. https://​doi.​org/​10.​1016/​j.​neurobiolaging.​2008.​07.​014 CrossRefPubMed
18.
Zurück zum Zitat Need AC, Attix DK, McEvoy JM, Cirulli ET, Linney KN, Wagoner AP, Gumbs CE, Giegling I, Möller H-J, Francks C, Muglia P, Roses A, Gibson G, Weale ME, Rujescu D, Goldstein DB (2008) Failure to replicate effect of kibra on human memory in two large cohorts of European origin. Am J Med Genet B Neuropsychiatr Genet 147B:667–668. https://doi.org/10.1002/ajmg.b.30658 CrossRefPubMed Need AC, Attix DK, McEvoy JM, Cirulli ET, Linney KN, Wagoner AP, Gumbs CE, Giegling I, Möller H-J, Francks C, Muglia P, Roses A, Gibson G, Weale ME, Rujescu D, Goldstein DB (2008) Failure to replicate effect of kibra on human memory in two large cohorts of European origin. Am J Med Genet B Neuropsychiatr Genet 147B:667–668. https://​doi.​org/​10.​1002/​ajmg.​b.​30658 CrossRefPubMed
21.
Zurück zum Zitat Porter T, Burnham SC, Doré V, Savage G, Bourgeat P, Begemann K, Milicic L, Ames D, Bush AI, Maruff P, Masters CL, Rowe CC, Rainey-Smith S, Martins RN, Groth D, Verdile G, Villemagne VL, Laws SM (2018) KIBRA is associated with accelerated cognitive decline and hippocampal atrophy in APOE ε4-positive cognitively normal adults with high Aβ-amyloid burden. Sci Rep 8:2034. https://doi.org/10.1038/s41598-018-20513-y CrossRefPubMedPubMedCentral Porter T, Burnham SC, Doré V, Savage G, Bourgeat P, Begemann K, Milicic L, Ames D, Bush AI, Maruff P, Masters CL, Rowe CC, Rainey-Smith S, Martins RN, Groth D, Verdile G, Villemagne VL, Laws SM (2018) KIBRA is associated with accelerated cognitive decline and hippocampal atrophy in APOE ε4-positive cognitively normal adults with high Aβ-amyloid burden. Sci Rep 8:2034. https://​doi.​org/​10.​1038/​s41598-018-20513-y CrossRefPubMedPubMedCentral
23.
Zurück zum Zitat Winblad B, Palmer K, Kivipelto M, Jelic V, Fratiglioni L, Wahlund L-O, Nordberg A, Bäckman L, Albert M, Almkvist O, Arai H, Basun H, Blennow K, De Leon M, DeCarli C, Erkinjuntti T, Giacobini E, Graff C, Hardy J, Jack C, Jorm A, Ritchie K, Van Duijn C, Visser P, Petersen R c (2004) Mild cognitive impairment – beyond controversies, towards a consensus: report of the international working group on mild cognitive impairment. J Intern Med 256:240–246. https://doi.org/10.1111/j.1365-2796.2004.01380.x CrossRefPubMed Winblad B, Palmer K, Kivipelto M, Jelic V, Fratiglioni L, Wahlund L-O, Nordberg A, Bäckman L, Albert M, Almkvist O, Arai H, Basun H, Blennow K, De Leon M, DeCarli C, Erkinjuntti T, Giacobini E, Graff C, Hardy J, Jack C, Jorm A, Ritchie K, Van Duijn C, Visser P, Petersen R c (2004) Mild cognitive impairment – beyond controversies, towards a consensus: report of the international working group on mild cognitive impairment. J Intern Med 256:240–246. https://​doi.​org/​10.​1111/​j.​1365-2796.​2004.​01380.​x CrossRefPubMed
24.
Zurück zum Zitat McKhann GM, Knopman DS, Chertkow H, Hyman BT, Jack CR, Kawas CH, Klunk WE, Koroshetz WJ, Manly JJ, Mayeux R, Mohs RC, Morris JC, Rossor MN, Scheltens P, Carrillo MC, Thies B, Weintraub S, Phelps CH (2011) The diagnosis of dementia due to Alzheimer’s disease: recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer’s disease, Alzheimers Dement. J Alzheimers Assoc 7:263–269. https://doi.org/10.1016/j.jalz.2011.03.005 CrossRef McKhann GM, Knopman DS, Chertkow H, Hyman BT, Jack CR, Kawas CH, Klunk WE, Koroshetz WJ, Manly JJ, Mayeux R, Mohs RC, Morris JC, Rossor MN, Scheltens P, Carrillo MC, Thies B, Weintraub S, Phelps CH (2011) The diagnosis of dementia due to Alzheimer’s disease: recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer’s disease, Alzheimers Dement. J Alzheimers Assoc 7:263–269. https://​doi.​org/​10.​1016/​j.​jalz.​2011.​03.​005 CrossRef
25.
Zurück zum Zitat Crook TH, Feher EP, Larrabee GJ (1992) Assessment of memory complaint in age-associated memory impairment: the MAC-Q. Int Psychogeriatr 4:165–176CrossRefPubMed Crook TH, Feher EP, Larrabee GJ (1992) Assessment of memory complaint in age-associated memory impairment: the MAC-Q. Int Psychogeriatr 4:165–176CrossRefPubMed
26.
Zurück zum Zitat Jessen F, Amariglio RE, van Boxtel M, Breteler M, Ceccaldi M, Chételat G, Dubois B, Dufouil C, Ellis KA, van der Flier WM, Glodzik L, van Harten AC, de Leon MJ, McHugh P, Mielke MM, Molinuevo JL, Mosconi L, Osorio RS, Perrotin A, Petersen RC, Rabin LA, Rami L, Reisberg B, Rentz DM, Sachdev PS, de la Sayette V, Saykin AJ, Scheltens P, Shulman MB, Slavin MJ, Sperling RA, Stewart R, Uspenskaya O, Vellas B, Visser PJ, Wagner M (2014) A conceptual framework for research on subjective cognitive decline in preclinical Alzheimer’s disease, Alzheimers Dement. J Alzheimers Assoc 10:844–852. https://doi.org/10.1016/j.jalz.2014.01.001 CrossRef Jessen F, Amariglio RE, van Boxtel M, Breteler M, Ceccaldi M, Chételat G, Dubois B, Dufouil C, Ellis KA, van der Flier WM, Glodzik L, van Harten AC, de Leon MJ, McHugh P, Mielke MM, Molinuevo JL, Mosconi L, Osorio RS, Perrotin A, Petersen RC, Rabin LA, Rami L, Reisberg B, Rentz DM, Sachdev PS, de la Sayette V, Saykin AJ, Scheltens P, Shulman MB, Slavin MJ, Sperling RA, Stewart R, Uspenskaya O, Vellas B, Visser PJ, Wagner M (2014) A conceptual framework for research on subjective cognitive decline in preclinical Alzheimer’s disease, Alzheimers Dement. J Alzheimers Assoc 10:844–852. https://​doi.​org/​10.​1016/​j.​jalz.​2014.​01.​001 CrossRef
27.
Zurück zum Zitat Albert MS, DeKosky ST, Dickson D, Dubois B, Feldman HH, Fox NC, Gamst A, Holtzman DM, Jagust WJ, Petersen RC, Snyder PJ, Carrillo MC, Thies B, Phelps CH (2011) The diagnosis of mild cognitive impairment due to Alzheimer’s disease: recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer’s disease, Alzheimers Dement. J Alzheimers Assoc 7:270–279. https://doi.org/10.1016/j.jalz.2011.03.008 CrossRef Albert MS, DeKosky ST, Dickson D, Dubois B, Feldman HH, Fox NC, Gamst A, Holtzman DM, Jagust WJ, Petersen RC, Snyder PJ, Carrillo MC, Thies B, Phelps CH (2011) The diagnosis of mild cognitive impairment due to Alzheimer’s disease: recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer’s disease, Alzheimers Dement. J Alzheimers Assoc 7:270–279. https://​doi.​org/​10.​1016/​j.​jalz.​2011.​03.​008 CrossRef
28.
Zurück zum Zitat Bracco L, Amaducci L, Pedone D, Bino G, Lazzaro MP, Carella F, D’Antona R, Gallato R, Denes G (1990) Italian multicentre study on dementia (SMID): a neuropsychological test battery for assessing Alzheimer’s disease. J Psychiatr Res 24:213–226CrossRefPubMed Bracco L, Amaducci L, Pedone D, Bino G, Lazzaro MP, Carella F, D’Antona R, Gallato R, Denes G (1990) Italian multicentre study on dementia (SMID): a neuropsychological test battery for assessing Alzheimer’s disease. J Psychiatr Res 24:213–226CrossRefPubMed
30.
Zurück zum Zitat Baddeley A, Della Sala S, Papagno C, Spinnler H (1997) Dual-task performance in dysexecutive and nondysexecutive patients with a frontal lesion. Neuropsychology 11:187–194CrossRefPubMed Baddeley A, Della Sala S, Papagno C, Spinnler H (1997) Dual-task performance in dysexecutive and nondysexecutive patients with a frontal lesion. Neuropsychology 11:187–194CrossRefPubMed
31.
Zurück zum Zitat Spinnler H, Tognoni G (1987) Standardizzazione e taratura italiana di test neuropsicologici: gruppo italiano per lo studio neuropsicologico dell’invecchiamento. Masson Italia Periodici, Milano Spinnler H, Tognoni G (1987) Standardizzazione e taratura italiana di test neuropsicologici: gruppo italiano per lo studio neuropsicologico dell’invecchiamento. Masson Italia Periodici, Milano
32.
Zurück zum Zitat Giovagnoli AR, Del Pesce M, Mascheroni S, Simoncelli M, Laiacona M, Capitani E (1996) Trail making test: normative values from 287 normal adult controls. Ital J Neurol Sci 17:305–309CrossRefPubMed Giovagnoli AR, Del Pesce M, Mascheroni S, Simoncelli M, Laiacona M, Capitani E (1996) Trail making test: normative values from 287 normal adult controls. Ital J Neurol Sci 17:305–309CrossRefPubMed
33.
Zurück zum Zitat M. Brazzelli, S. Della Sala, M. Laiacona, Calibration of the Italian version of the Rivermead Behavioural Memory Test: a test for the ecological evaluation of memory., Boll Psicol Appl. (1993) 33–42. M. Brazzelli, S. Della Sala, M. Laiacona, Calibration of the Italian version of the Rivermead Behavioural Memory Test: a test for the ecological evaluation of memory., Boll Psicol Appl. (1993) 33–42.
35.
Zurück zum Zitat Sorbi S, Nacmias B, Forleo P, Latorraca S, Gobbini I, Bracco L, Piacentini S, Amaducci L (1994) ApoE allele frequencies in Italian sporadic and familial Alzheimer’s disease. Neurosci Lett 177:100–102CrossRefPubMed Sorbi S, Nacmias B, Forleo P, Latorraca S, Gobbini I, Bracco L, Piacentini S, Amaducci L (1994) ApoE allele frequencies in Italian sporadic and familial Alzheimer’s disease. Neurosci Lett 177:100–102CrossRefPubMed
36.
Zurück zum Zitat Hayashi N, Kazui H, Kamino K, Tokunaga H, Takaya M, Yokokoji M, Kimura R, Kito Y, Wada T, Nomura K, Sugiyama H, Yamamoto D, Yoshida T, Currais A, Soriano S, Hamasaki T, Yamamoto M, Yasuda Y, Hashimoto R, Tanimukai H, Tagami S, Okochi M, Tanaka T, Kudo T, Morihara T, Takeda M (2010) KIBRA genetic polymorphism influences episodic memory in Alzheimer’s disease, but does not show association with disease in a Japanese cohort. Dement Geriatr Cogn Disord 30:302–308. https://doi.org/10.1159/000320482 CrossRefPubMed Hayashi N, Kazui H, Kamino K, Tokunaga H, Takaya M, Yokokoji M, Kimura R, Kito Y, Wada T, Nomura K, Sugiyama H, Yamamoto D, Yoshida T, Currais A, Soriano S, Hamasaki T, Yamamoto M, Yasuda Y, Hashimoto R, Tanimukai H, Tagami S, Okochi M, Tanaka T, Kudo T, Morihara T, Takeda M (2010) KIBRA genetic polymorphism influences episodic memory in Alzheimer’s disease, but does not show association with disease in a Japanese cohort. Dement Geriatr Cogn Disord 30:302–308. https://​doi.​org/​10.​1159/​000320482 CrossRefPubMed
37.
Zurück zum Zitat Kawai E, Shibata N, Nagata T, Shinagawa S, Tagai K, Tgai K, Ohnuma T, Shimazaki H, Toda A, Kasanuki K, Takayama T, Suzuki A, Nakayama K, Yamada H, Arai H (2015) Genetic association between KIBRA polymorphism and Alzheimer’s disease with in a Japanese population. NeuroMolecular Med 17:170–177. https://doi.org/10.1007/s12017-015-8348-8 CrossRefPubMed Kawai E, Shibata N, Nagata T, Shinagawa S, Tagai K, Tgai K, Ohnuma T, Shimazaki H, Toda A, Kasanuki K, Takayama T, Suzuki A, Nakayama K, Yamada H, Arai H (2015) Genetic association between KIBRA polymorphism and Alzheimer’s disease with in a Japanese population. NeuroMolecular Med 17:170–177. https://​doi.​org/​10.​1007/​s12017-015-8348-8 CrossRefPubMed
43.
45.
Zurück zum Zitat Bessi V, Mazzeo S, Padiglioni S, Piccini C, Nacmias B, Sorbi S, Bracco L (2018) From subjective cognitive decline to Alzheimer’s disease: the predictive role of neuropsychological assessment, personality traits, and cognitive reserve. A 7-year follow-up study. J Alzheimers Dis JAD 63:1523–1535. https://doi.org/10.3233/JAD-171180 CrossRefPubMed Bessi V, Mazzeo S, Padiglioni S, Piccini C, Nacmias B, Sorbi S, Bracco L (2018) From subjective cognitive decline to Alzheimer’s disease: the predictive role of neuropsychological assessment, personality traits, and cognitive reserve. A 7-year follow-up study. J Alzheimers Dis JAD 63:1523–1535. https://​doi.​org/​10.​3233/​JAD-171180 CrossRefPubMed
Metadaten
Titel
KIBRA T allele influences memory performance and progression of cognitive decline: a 7-year follow-up study in subjective cognitive decline and mild cognitive impairment
verfasst von
Salvatore Mazzeo
Valentina Bessi
Sonia Padiglioni
Silvia Bagnoli
Laura Bracco
Sandro Sorbi
Benedetta Nacmias
Publikationsdatum
05.04.2019
Verlag
Springer International Publishing
Erschienen in
Neurological Sciences / Ausgabe 8/2019
Print ISSN: 1590-1874
Elektronische ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-019-03866-8

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