Research Overview
Microarray Gene and miRNA Expression Studies:
Looking for New Therapeutic Targets for Frontotemporal
Lobar Degeneration
Elena Milanesi
1
* and Andrea Pilotto
2,3
1
Faculty of Medicine, Tel Aviv University, Tel Aviv, 69978, Israel
2
Department of Neurodegeneration, University of Tübingen, Tübingen, 72074, Germany
3
Centre for Ageing Brain and Neurodegenerative Disorders, University of Brescia, Brescia,
25123, Italy
Strategy, Management and Health Policy
Enabling
Technology,
Genomics,
Proteomics
Preclinical
Research
Preclinical Development
Toxicology, Formulation
Drug Delivery,
Pharmacokinetics
Clinical Development
Phases I-III
Regulatory, Quality,
Manufacturing
Postmarketing
Phase IV
ABSTRACT Frontotemporal lobar degeneration (FTLD) encompasses a spectrum of neurodegenerative
disorders characterized by behavioral, executive and language impairment, with a common overlap with
parkinsonism and motor-neuron disease. Despite an increased understanding of its genetic background
and molecular pathophysiology, FTLD is still an orphan disorder and there are currently no effective
therapies available. In this brief overview we report the results obtained by several high-throughput and
bioinformatic studies aimed at discovering impairment in the transcriptional profiles in brain and periph-
eral tissues from FTLD patients and in animal models. Taken together, all these results provide an
interesting but still fragmentary list of genes and miRNAs whose role in FTLD should be thoroughly
investigated. Drug Dev Res 75 : 366–371, 2014. © 2014 Wiley Periodicals, Inc.
Key words: frontotemporal degeneration; microarray; gene expression analyses; genetics; therapy; drug targets
INTRODUCTION
Genomics, proteomics and metabolomics have
profoundly changed the traditional approaches to drug
discovery and development. In many fields of medical
science, such as in oncology, potential drug targets
are increasingly being identified combining high-
throughput sequencing, microarray gene expression,
microRNA (miRNA) studies and recently next genera-
tion sequencing (NGS) data [Koboldt et al., 2013].
Given its strong genetic background, frontotemporal
lobar degeneration (FTLD) probably represents one
of the best models for translational research in
neurodegenerative disease. However, despite the large
amount of genetic, proteomic, clinical and pathological
data available, only few targets have so far been identi-
fied and reached the evaluation in clinical setting
[Miller et al., 2014]. In this brief overview we summa-
rize published gene expression/miRNA studies con-
ducted in preclinical FTLD models, on post-mortem
human brain tissues and in vivo, with the aim to high-
light the most promising discoveries in FTLD research,
underlining the importance of bioinformatics as an ulti-
mate strategy in translational research.
FTLD OVERVIEW: CLINICAL, GENETICS AND
NEUROPATHOLOGY
Frontotemporal dementia (FTD) refers to a group
of clinically heterogeneous disorders characterized by
*Correspondence to: Elena Milanesi, Department of
Human Molecular Genetics and Biochemistry, Sackler Faculty of
Medicine, Tel Aviv University, Tel Aviv, 69978, Israel.
E-mail: elena.k.milanesi@gmail.com
Published online in Wiley Online Library (wileyonlinelibrary
.com). DOI: 10.1002/ddr.21224
DRUG DEVELOPMENT RESEARCH 75 : 366–371 (2014)
DDR
© 2014 Wiley Periodicals, Inc.