Laboratory Focus
The Laboratory of Neuromuscular Disorders conducts clinical and basic research on the molecular genetics of hereditary neurological and neuromuscular disorders. The goal of this research is to improve treatment and to identify the causes of these devastating diseases that can result in significant disability or death.
Current Research Projects
Hereditary Motor Sensory Neuropathy (HMSN)
Hereditary motor sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth (CMT) disease, is a clinically and genetically heterogeneous group of neuromuscular disorders characterized by progressive distal muscle weakness and atrophy with skeletal deformity, decreased deep tendon reflexes, and sensory impairment.
Researchers at Barrow have identified a large group of genetically related individuals in Mongolia who are affected with two different types of HMSN: autosomal dominant distal spinal muscular atrophy type Y (dSMA-Y) and Charcot-Marie-Tooth disease type 2D (CMT2D). They have determined that the gene or genes causing these diseases are located at chromosome 7p15 and now are searching for the specific location of the gene. Once the gene is found, its pathogenic role in HMSN will be studied.
Essential Tremor
Essential tremor is the most common movement disorder. It is characterized by postural tremor (tremors that occur while voluntarily holding a position against gravity), predominantly of the arms and hands in the absence of other disease symptoms.
About 50% of patients have a familial form of essential tremor. Genetic linkage has been found to two different chromosomal regions, 2p and 3p, and further genetic heterogeneity of the disorder is reported. Barrow researchers are analyzing several families to determine linkage and to find the genes involved in essential tremor.
Malignant Hyperthermia
Malignant hyperthermia is an anesthetic drug-induced, life-threatening hypermetabolic syndrome that is triggered when patients are exposed to certain anesthetic drugs. It is caused by abnormal calcium regulation in skeletal muscle. Malignant hyperthermia is a dominantly inherited disorder that can be diagnosed by using caffeine/halothane contracture tests.
Barrow is among the few research centers in the United States that offers genetic screening for malignant hyperthermia. Barrow researchers have discovered many novel malignant hyperthermia-associated mutations in the ryanodine receptor gene of skeletal muscle and are developing a noninvasive test for malignant hyperthermia based on DNA analysis.
Desmin-Related Myopathy
Desmin-related myopathy is a group of hereditary or sporadic skeletal myopathies that frequently occur in conjunction with cardiomyopathy. The histological hallmark of this disorder is the accumulation of desmin in muscle tissue. Desmin is a muscle-specific intermediate filament that creates an intracellular network that gives structure and strength to muscle cells.
Barrow researchers have evaluated a number of patients with desmin-related myopathy and have identified and characterized different disease-associated mutations in the desmin gene. The goal of the Laboratory of Neuromuscular Disorders is to understand the molecular pathogenesis of desmin-related myopathy and to identify novel genes in desmin-related myopathy families that do not carry the desmin gene abnormality.
MD Cardiology Study—Arrhythmias and Pacemaker Intervention
The MD Cardiology Study is a 3-year study of heart problems commonly associated with myotonic muscular dystrophy. The study is intended to define the risks of and optimal treatment for arrhythmias in individuals with myotonic muscular dystrophy. http://www.mdausa.org/research/
Neuromuscular Diseases in Mongolia: Distal Spinal Muscular Atrophy and Myotonic Dystrophy
This study is designed to investigate the high incidence of myotonic dystrophy identified in Mongolia and to characterize and identify the molecular basis of an inherited disorder of motor neurons.
Efficacy of Enbrel in Patients with Dermatomyositis
This study evaluates the efficacy of enbrel, a human recombinant molecule, in the treatment of dermatomyositis. Enbrel blocks the effects of a mediator of inflammatory tissue destruction. The aims of this study are to evaluate the effectiveness of enbrel at reducing the symptoms observed in dermatomyositis patients and to increase our understanding of dermomyositis and other inflammatory myopathies.
Clinical Trials Links
The following websites have information about clinical trials related to neuromuscular diseases.
The following website links are provided for your convenience only. Barrow Neurological Institute neither endorses nor is responsible for the content in any way.
