[Dynamic mutations--a newly detected category of mutations which is the basis for certain neurologic diseases].
This review offers some basic information on the discovery of a new type of mutations being the cause of some significant neurologic diseases: myotonic dystrophy, Huntington's disease, spinocerebellar ataxia type 1, spinobulbar pallido-louysian muscular atrophy, fragile X syndrome and some other, up to a total of ten entities. The basis of the so-called dynamic mutations is an abnormal multiplication of a trinucleotide producing sequences of several hundreds or even thousands of identical copies in the respective gene. The result is designated as expanded or amplified trinucleotide (or triplet) repeat. These sequences are not stable, but increase (or exceptionally decrease) in length during cell multiplication in successive generations. They segregate within families with the affected members, demonstrating a significant correlation between the length of the repeat sequence, the severity of the pathologic phenotype and an inverse correlation with the age at the clinical manifestation of the disease. Thus, at least, a formal explanation for the anticipation phenomenon of the age at which the disease is manifested within a family is offered. The importance of the discovery of dynamic mutations lies in the possibility for more precise and reliable genetic counselling. The discovery has opened a lot of new questions giving a new impetus for intensive research.
Mardesić
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Klinicki bolnicki centar Zagreb.
D002493:Central Nervous System Diseases / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics; D006801:Humans; D006816:Huntington Disease / Q000235:genetics; D009154:Mutation; D009223:Myotonic Dystrophy / Q000235:genetics; D010375:Pedigree; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics
Dinamicne mutacije--novootkrivena kategorija mutacija osnova su za nekoliko neuroloskih bolesti.