Analysis of the survival motor neuron and neuronal apoptosis inhibitory protein genes in Malay patients with Spinal Muscular Atrophy

Med J Malaysia. 2004 Oct;59(4):512-4.

Abstract

In Malaysia, Spinal Muscular Atrophy (SMA) is diagnosed based on clinical observation with or without muscle biopsy. Molecular analyses of the SMA-related genes have not been available so far. In this preliminary study, we searched for homozygous deletion of Survival Motor Neuron (SMN1) and Neuronal Apoptosis Inhibitory Protein (NAIP) genes in Malay patients with SMA and found homozygous deletion of SMN1 exon 7 and 8 in all the patients while homozygous deletion of NAIP exon 5 was detected in only our type 1 patients but not in the type 3 patient. To the best of our knowledge, these are the first SMA cases diagnosed at the molecular level in Malaysia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cyclic AMP Response Element-Binding Protein / genetics*
  • Humans
  • Malaysia
  • Muscular Atrophy, Spinal / genetics*
  • Nerve Tissue Proteins / genetics*
  • Neuronal Apoptosis-Inhibitory Protein
  • RNA-Binding Proteins / genetics*
  • SMN Complex Proteins
  • Survival of Motor Neuron 1 Protein

Substances

  • Cyclic AMP Response Element-Binding Protein
  • NAIP protein, human
  • Nerve Tissue Proteins
  • Neuronal Apoptosis-Inhibitory Protein
  • RNA-Binding Proteins
  • SMN Complex Proteins
  • SMN1 protein, human
  • Survival of Motor Neuron 1 Protein