Andrew G. Engel, M.D., has investigated different muscle and neuromuscular junction disorders at Mayo Clinic since 1965.
His earlier studies focused on congenital myopathies, Duchenne muscular dystrophy and other types of muscular dystrophy, different types of inflammatory and metabolic myopathies, and various myasthenic syndromes. This research resulted in landmark publications that shaped the thinking of neurologists and investigators of neuromuscular disorders over several decades.
Dr. Engel's research at Mayo Clinic has resulted in the discovery of more than 10 new diseases. 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. The following is done to elucidate the cause of neuromuscular disorders:
- The team evaluates the clinical and electromyographic studies.
- The team examines the structural changes in muscle and the neuromuscular junction by histochemistry, immunocytochemistry and electron microscopy.
- In patients with myasthenic syndromes, the team evaluates electrophysiologic parameters of neuromuscular transmission by in vitro microelectrode and patch-clamp studies.
- If studies point to a candidate gene, 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 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 helped patients better manage their diseases. For example, blockers of the acetylcholine receptor channel proved to be the best treatment for the slow-channel congenital myasthenic syndrome. Another treatment example, cholinergic agonists are the preferred method for the fast-channel congenital myasthenic syndrome. Additionally, albuterol, an adrenergic agonist, is the treatment of choice for congenital acetylcholinesterase deficiency and the limb-girdle myasthenia caused by mutations in the docking protein 7 (DOK7) gene.
- Doctor of the Year, Myasthenia Gravis Foundation of America, 2010
- Member, Institute of Medicine of the National Academy of Sciences, elected 2003
- Lifetime Achievement Award, World Federation of Neurology, 2002
- Jacob Javits Award in the Neurosciences, National Institute of Neurological Disorders and Stroke, 1984-1991 and 1995-2001
- Jerry Lewis Research Award, Muscular Dystrophy Association, 1992
- Duchenne-Erb Prize, German Muscular Dystrophy Association, 1990