Advertisement
Advertise here Publish your press releases here Sponsor BioPortfolio
Follow us on Twitter Sign up for daily news and research emails Contributors wanted

Neuropathology and omics in motor neuron diseases.

12:59 EDT 24th July 2014 | BioPortfolio

Summary of "Neuropathology and omics in motor neuron diseases."

Motor neuron diseases, including amyotrophic lateral sclerosis (ALS), are devastating disorders and effective therapies have not yet been established. One of the reasons for this lack of therapeutics, especially in sporadic ALS (SALS), is attributed to the absence of excellent disease models reflecting its pathology. For this purpose, identifying important key molecules for ALS pathomechanisms and developing disease models is crucial, and omics approaches, including genomics, transcriptomics and proteomics, have been employed. In particular, transcriptome analysis using cDNA microarray is the most popular omics approach and we have previously identified dynactin-1 as an important molecule downregulated in the motor neurons of SALS patients from the early stage of the disease. Dynactin-1 is also known as a causative gene in familial ALS (FALS). Dynactin-1 is a major component of the dynein/dynactin motor protein complex functioning in retrograde axonal transport. In motor neuron diseases as well as other neurodegenerative diseases, the role of axonal transport dysfunction in their pathogenesis always draws attention, but its precise mechanisms remain to be fully elucidated. In this article, we review our previous omics approach to SALS and the role of dynactin-1 in the pathogenesis of ALS. Finally, we emphasize the need for creating novel SALS disease models based on the results of omics analysis, especially based on the observation that dynactin-1 gene expression was downregulated in SALS motor neurons.

Affiliation

Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya Department of Speech Pathology and Audiology, Aichi Gakuin University School of Health Science, Aichi Core Research for Evolutional Science and Technolo

Journal Details

This article was published in the following journal.

Name: Neuropathology : official journal of the Japanese Society of Neuropathology
ISSN: 1440-1789
Pages:

Links

PubMed Articles [10209 Associated PubMed Articles listed on BioPortfolio]

More than a bystander: the contributions of intrinsic skeletal muscle defects in motor neuron diseases.

Spinal muscular atrophy (SMA), amyotrophic lateral sclerosis (ALS), and spinal-bulbar muscular atrophy (SBMA) are devastating diseases characterized by the degeneration of motor neurons. Although the...

Human induced pluripotent stem cells pave the road for a better understanding of motor neuron disease.

While motor neuron diseases are currently incurable, induced pluripotent stem cell research has uncovered some disease relevant phenotypes. We will discuss strategies to model different aspects of mot...

Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases.

The GGGGCC-hexanucleotide repeat expansion in C9orf72 is the most common genetic cause of familial amyotrophic lateral sclerosis and frontotemporal dementia. This study determined the frequency of C9o...

Late onset GM2 gangliosidosis presenting with motor neuron disease: An autopsy case.

Adult-onset GM2 gangliosidosis is very rare and only three autopsy cases have been reported up to now. We report herein an autopsy case of adult-onset GM2 gangliosidosis. The patient developed slowly...

A plural role for lipids in motor neuron diseases: energy, signaling and structure.

Motor neuron diseases (MNDs) are characterized by selective death of motor neurons and include mainly adult-onset amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). Neurodegenerati...

Clinical Trials [1696 Associated Clinical Trials listed on BioPortfolio]

Levetiracetam for Cramps, Spasticity and Neuroprotection in Motor Neuron Disease

Levetiracetam (Keppra) is used to treat partial onset seizures. Its biological effects suggest it might also be useful in treating 3 aspects of human motor neuron diseases (MNDs) for whic...

Collection of Blood Samples for DNA in Motor Neuron Disease

This study will collect blood samples from patients with primary lateral sclerosis (PLS) and amyotrophic lateral sclerosis (ALS) to be used for research on genetic causes of motor neuron d...

Amyotrophic Lateral Sclerosis (ALS) Tissue Donation Program

Despite significant progress in the identification of mechanisms involved in motor neuron degeneration in Amyotrophic Lateral Sclerosis (ALS) and other motor system diseases, the actual pa...

Study of the Effects Strengthening Exercises in Individuals With ALS

Amyotrophic Lateral Sclerosis (ALS) is the most common motor neuron disease MND) among adults. Motor neurons in the spinal cord, brain stem, and cerebral motor cortex degenerate and create...

Effect of Bone on Alpha Motor Neuron Excitability

This study hypothesizes that bone subjecting to mechanical loading may affect excitability of alpha motor neuron innervating muscle. Among patients who will be admitted to the investigato...

Medical and Biotech [MESH] Definitions

Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders.

A SMN complex protein that is closely-related to SURVIVAL OF MOTOR NEURON 1 PROTEIN. In humans, the protein is encoded by an often duplicated gene found near the inversion centromere of a large inverted region of CHROMOSOME 5.

A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.

Involuntary contraction of the muscle fibers innervated by a motor unit. Fasciculations can often by visualized and take the form of a muscle twitch or dimpling under the skin, but usually do not generate sufficient force to move a limb. They may represent a benign condition or occur as a manifestation of MOTOR NEURON DISEASE or PERIPHERAL NERVOUS SYSTEM DISEASES. (Adams et al., Principles of Neurology, 6th ed, p1294)

A SMN complex protein that is essential for the function of the SMN protein complex. In humans the protein is encoded by a single gene found near the inversion telomere of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.

Search BioPortfolio: