Andrew G. Engel, M.D., has investigated different muscle and neuromuscular junction disorders at Mayo Clinic since 1965.
His previous seminal studies on congenital myopathies, Duchenne and other types of muscular dystrophy, different types of inflammatory myopathies, and disorders of neuromuscular transmission resulted in landmark publications that shaped the thinking of neurologists and investigators of neuromuscular disorders over several decades.
Dr. Engel's research at Mayo has resulted in the discovery of more than 10 new syndromes. The National Institutes of Health and the Muscular Dystrophy Association have funded his research.
Dr. Engel and his research team investigate recently identified muscular dystrophies by clinical, morphologic and molecular genetic approaches.
To elucidate the cause of neuromuscular junction diseases, they:
- Evaluate the clinical features
- Examine the structural changes at the motor endplate by cytochemical and electron microscopy studies
- Determine the number of acetylcholine receptors at the endplate
- Evaluate the electrophysiologic parameters of neuromuscular transmission by in vitro microelectrode and patch-clamp studies
If the above studies point to a candidate gene, then that gene is scrutinized by mutation analysis.
If a mutation is identified, the mechanism by which the mutant gene causes disease is investigated by engineering the mutant and corresponding wild-type gene into a suitable expression system, which is then interrogated by appropriate electrophysiologic and biochemical tests.
Significance to patient care
Discovery of several types of myasthenic syndromes has enabled Dr. Engel and his colleagues to determine the optimal therapy for different syndromes. Use of the correct medication has given "new life" to patients.
- Blockers of the acetylcholine receptor channel proved to be the best treatment for the slow-channel congenital myasthenic syndrome
- Cholinergic agonists are the preferred treatment for the fast-channel congenital myasthenic syndrome
- Albuterol, an adrenergic agonist, is the treatment of choice for congenital acetylcholinesterase deficiency and the limb-girdle myasthenia caused by mutations in the DOK7 gene
- Associate Editor, Neuromuscular Disorders, 1997-present
- Member, Institute of Medicine, National Academy of Sciences, 2003-present
- Associate Editor, Neurology, 2007-present
- Doctor of the Year, Myasthenia Gravis Foundation of America, 2010
- Lifetime Achievement Award, World Federation of Neurology, 2002
- Senator Jacob Javits Award in the Neurosciences, National Institute of Neurological Disorders and Stroke, 1984-1991 and 1995-2001
- Distinguished Investigator Award, Mayo Clinic, 1994
- Jerry Lewis Research Award, Muscular Dystrophy Association, 1992
- Duchenne-Erb Prize, German Muscular Dystrophy Association, 1990
- Honorary Member — European Neurological Society, German Neurological Society, Spanish Society of Neurology, German Society for Clinical Neurophysiology, American Association of Neuromuscular & Electrodiagnostic Medicine
- Past Associate Editor — Muscle & Nerve, Annals of Neurology, Journal of Neuropathology & Experimental Neurology, European Neurology