Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042963 (vomiting)
 31,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Familial dysautonomia (FD), a recessive neurodegenerative disease, is caused by mutations in the IKBKAP gene that result in the production of nonfunctional IKAP protein. Manifestations of FD include autonomic crises characterized by hypertension, tachycardia, diaphoresis, and vomiting. Elevated plasma levels of norepinephrine (NE) and dopamine observed during autonomic crises and an exaggerated hypertensive response to low doses of NE prompted an examination of monoamine oxidase (MAO) levels, key isoenzymes responsible for degrading biogenic and dietary monoamines, in individuals with FD. Fetal tissue homozygous for the common FD-causing mutation and peripheral blood cells of individuals with FD have reduced MAO A mRNA levels. FD-derived cells, stimulated with tocotrienols or EGCG to produce increased levels of functional IKAP, express increased amounts of MAO A mRNA transcript and protein. Administration of tocotrienol to individuals with FD results in increased expression of both functional IKAP and MAO A transcripts in their peripheral blood cells. These findings provide new insight into the pathophysiology of FD and demonstrate the value of therapeutic approaches designed to elevate cellular levels of functional IKAP and MAO A.
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PMID:Tocotrienols reverse IKAP and monoamine oxidase deficiencies in familial dysautonomia. 1612 77

Familial dysautonomia (FD) is an autosomal recessive disorder characterized by autonomic and sensory neuropathy. Owing to pervasive dysfunction, the disease has protean clinical manifestations, affecting the ocular, gastrointestinal, pulmonary, orthopedic, vasomotor, and neurologic systems. The gastrointestinal perturbations, including dysphagia, gastroesophageal dysmotility, gastroesophageal reflux, and vomiting crises, are among the earliest signs. Here, we present the first 3 instances of gastric ulcers in patients with FD and discuss their common presenting features and the special management that was required.
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PMID:Complicated peptic ulcer disease in three patients with familial dysautonomia. 2093 Jun 41

Vagal and non-vagal pathways as well as several brainstem nuclei participate in vomiting in response to different emetic stimuli. Autonomic pathways involved in nausea are less well understood. Numerous gastrointestinal disorders with prominent nausea and vomiting including gastroparesis, cyclic vomiting syndrome, and motion sickness have associated autonomic nervous system dysfunction. Autonomic disturbances are also seen with non-gastrointestinal diseases with gut manifestations such as migraine headaches, orthostatic intolerance, and familial dysautonomia. Stimulation of emetic pathways involves activation of a range of receptor subtypes. Agents acting on these receptors form the basis for antiemetic therapies. Chemotherapy-induced nausea and vomiting, a prevalent and severe consequence of anticancer treatment, is preventable in many instances by agents acting on the autonomic nervous system. Likewise, non-medication therapies may act in part via modulation of some of these same autonomic pathways.
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PMID:Pathology of emesis: its autonomic basis. 2409 37


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