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Pregledni rad
https://doi.org/10.13112/PC.2013.6

Spinal muscular atrophy – molecular genetics in diagnosis and therapy

Nina Barišić ; Klinika za pedijatriju, KBC Zagreb, Medicinski fakultet Sveučilišta u Zagrebu, Kišpatićeva 12, Zagreb, Hrvatska
Vanja Ivanović ; Klinika za pedijatriju, KBC Zagreb, Medicinski fakultet Sveučilišta u Zagrebu, Kišpatićeva 12, Zagreb, Hrvatska
Ivan Lehman ; Klinika za pedijatriju, KBC Zagreb, Medicinski fakultet Sveučilišta u Zagrebu, Kišpatićeva 12, Zagreb, Hrvatska
Petra Grđan ; Klinika za pedijatriju, KBC Zagreb, Medicinski fakultet Sveučilišta u Zagrebu, Kišpatićeva 12, Zagreb, Hrvatska

Puni tekst nije dostupan.

Sažetak
Spinal muscular atrophy is an autosomal recessive disorder characterized by lower alpha motor neuron degeneration. In most cases,
the disease results from homozygous deletions involving exon 7 of the “survival of motor neuron” (SMN) gene at locus 5q13. The
SMN2 gene is a copy of the SMN1 gene, which generates approximately 10%-15% of the correctly spliced transcript because the gene
contains a single silent nucleotide transition in exon 7, leading to frequent skipping of this exon during RNA splicing. The mechanism
is known as alternative splicing. Increase in the SMN levels has a marked impact in experimental models. This simple and practical
method of transferring genes may have a potential for use in the treatment of motoneuron disease in children and adults.

Ključne riječi
muscular atrophy, spinal; motor neurons, gamma; molecular biology; diagnosis; therapy

Hrčak ID: 119824

URI
https://hrcak.srce.hr/119824

[hrvatski]

Posjeta: 363 *