Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The paralytic tremor (pt) rabbit is an X-linked recessive mutant characterized by hypomyelination of the CNS. The onset of myelin mutants' neurological symptoms typically occurs about the tenth postnatal day. A partial recovery is often observed; thus, the life-span of affected animals is almost normal and they can breed successfully. Mutants presenting this phenotype were chosen for our study. Because proteins can serve as excellent markers for the myelin formation process, we examined the developmental expression of several important myelin proteins (PLP/DM-20, MBP, CNP, MAG, and MOG) in both pt mutant and control rabbit brain homogenates. Expression of the investigated proteins occurs in rabbits as follows: CNP and MAG are already present at the early postnatal stage; PLP/DM-20 and MBP appear about the 10th postnatal day; MOG, expressed last, has been detected on the 28th postnatal day. Whereas the MBP, CNP, MAG, and MOG content is only slightly reduced in mature pt mutant brain homogenates (80-90% of control values), the amount of PLP corresponds to approximately 30-40% of that present in controls. Expression of all of the examined proteins is substantially retarded in maturing brains, which leads to the conclusion that besides severe PLP deficiency, retardation of oligodendrocyte maturation is another probable feature of pt mutation.
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PMID:Expression of myelin-specific proteins during development of normal and hypomyelinated Paralytic tremor mutant rabbits. I. Studies on the brain homogenates. 858 24

An X-linked, recessive paralytic tremor (pt) mutation is characterized by CNS hypomyelination. In our previous work, we presented developmental studies on the expression of several myelin-specific proteins (PLP/DM-20, MBP, CNP, MAG, and MOG) in the brain homogeates of both pt mutant and age-matched control Chinchilla rabbits aged 1-120 postnatal days. A moderate reduction in all examined proteins and a striking PLP deficiency were observed in the pt mutant rabbits. In the present study, we investigated isolated and purified myelin fractions. A severe (approximately 30% of control values) and approximately constant hypomyelination of pt mutant CNS was observed during the entire investigated development (28-120 postnatal days). Although the neurological symptoms gradually regressed and a partial recovery of the affected animals usually occurred, no tendency toward regression of the hypomyelination was noticed. Whereas the content of CNP, MBP, and MAG in isolated myelin membrane fractions seemed close to normal, a drastic PLP deficiency was observed. A significantly elevated amount of MOG was found in the myelin of pt mutant rabbits. The controversy between the high degree of hypomyelination and the slight reduction in myelin protein marker expression (except for PLP) in mature brain homogenates is discussed with respect to retarded oligodendrocyte maturation and deficient processing of myelin membranes in pt mutant rabbits.
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PMID:Expression of myelin-specific proteins during development of normal and hypomyelinated Paralytic tremor mutant rabbits. II. Studies on the purified myelin. 858 25