MTRNR2L12: A Candidate Blood Marker of Early Alzheimer's Disease-Like Dementia in Adults with Down Syndrome

被引：15

作者：

Bik-Multanowski, Miroslaw ^{[1
]}

Pietrzyk, Jacek J. ^{[1
]}

Midro, Alina ^{[2
]}

机构：

[1] Jagiellonian Univ, Coll Med, Dept Med Genet, PL-30663 Krakow, Poland

[2] Med Univ Bialystok, Dept Clin Genet, Bialystok, Poland

来源：

JOURNAL OF ALZHEIMERS DISEASE | 2015年 / 46卷 / 01期

关键词：

Alzheimer's disease; blood marker; cognitive assessment; Down syndrome; early dementia; microarrays;

D O I：

10.3233/JAD-143030

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Morphological abnormalities observed typically in the brains of adults with Down syndrome are identical with those present in patients with Alzheimer's disease. However, only some adults with Down syndrome suffer from early dementia, whereas others remain unaffected. We aimed to identify the genomic background responsible for this observation. We performed cognitive assessment and genome expression analysis of blood mononuclear cells in seniors with Down syndrome. Unaffected elderly patients and younger patients with severe cognitive disability or cognitive deterioration differed significantly with regard to the MTRNR2L12 gene. Our findings suggest the potential value of this gene as a blood marker of early dementia in individuals with Down syndrome.

引用

页码：145 / 150

页数：6

共 10 条

[1] Evidence for potential functionality of nuclearly-encoded humanin isoforms [J].

Bodzioch, Marek ;

Lapicka-Bodzioch, Katarzyna ;

Zapala, Barbara ;

Kamysz, Wojciech ;

Kiec-Wilk, Beata ;

Dembinska-Kiec, Aldona .

GENOMICS, 2009, 94 (04) :247-256

[2]

Dalton AJ, 1986, PSYCHIAT CLIN N AM, V9, P959

[3]

Epstein C.J., 1989, Metabolic basis of inherited diseases, V6th, P291

[4] Humanin peptide suppresses apoptosis by interfering with Bax activation [J].

Guo, B ;

Zhai, DY ;

Cabezas, E ;

Welsh, K ;

Nouraini, S ;

Satterthwait, AC ;

Reed, JC .

NATURE, 2003, 423 (6938) :456-461

[5] A rescue factor abolishing neuronal cell death by a wide spectrum of familial Alzheimer's disease genes and Aβ [J].

Hashimoto, Y ;

Niikura, T ;

Tajima, H ;

Yasukawa, T ;

Sudo, H ;

Ito, Y ;

Kita, Y ;

Kawasumi, M ;

Kouyama, K ;

Doyu, M ;

Sobue, G ;

Koide, T ;

Tsuji, S ;

Lang, JC ;

Kurokawa, K ;

Nishimoto, I .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2001, 98 (11) :6336-6341

[6] Preliminary evaluation of a scale to assess cognitive function in adults with Down's syndrome: the Prudhoe Cognitive Function Test [J].

Kay, DWK ;

Tyrer, SP ;

Margallo-Lana, ML ;

Moore, PB ;

Fletcher, R ;

Berney, TP ;

Vithayathil, E .

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, 2003, 47 :155-168

[7] The peripheral blood transcriptome dynamically reflects system wide biology: a potential diagnostic tool [J].

Liew, CC ;

Ma, J ;

Tang, HC ;

Zheng, R ;

Dempsey, AA .

JOURNAL OF LABORATORY AND CLINICAL MEDICINE, 2006, 147 (03) :126-132

[8] Fifteen-year follow-up of 92 hospitalized adults with Down's syndrome: incidence of cognitive decline, its relationship to age and neuropathology [J].

Margallo-Lana, M. L. ;

Moore, P. B. ;

Kay, D. W. K. ;

Perry, R. H. ;

Reid, B. E. ;

Berney, T. P. ;

Tyrer, S. P. .

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, 2007, 51 :463-477

[9] Evaluating the comparability of gene expression in blood and brain [J].

Sullivan, PF ;

Fan, C ;

Perou, CM .

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2006, 141B (03) :261-268

[10] Genome-wide Association Studies in Alzheimer's Disease: A Review [J].

Tosto, Giuseppe ;

Reitz, Christiane .

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS, 2013, 13 (10)

← 1 →