Study of Survival of Motor Neuron (SMN) and Neuronal Apoptosis Inhibitory Protein (NAIP) gene deletions in SMA patients

Kesari, Akanchha; Misra, Usha Kant; Kalita, Jayantee; Mishra, Vijay Nath; Pradhan, Sunil; Patil, Siddramappa J.; Phadke, Shubha R.; Mittal, Balraj

doi:10.1007/s00415-005-0714-2

Cited by 17 publications

(8 citation statements)

References 26 publications

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“…Deletions involving both exons 7 and 8 were observed in 36 families (63%), being much more frequent than deletions restricted to exon 7 (4 families, 7%) or 8 (3 families, 5%), in agreement with previous investigations [ 8 , 23 , 42 , 43 ].…”

Section: Discussionsupporting

confidence: 92%

Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy

Sifi

Boulefkhad

et al. 2013

Journal of Neurodegenerative Diseases

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Spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disorder. It is divided into the acute Werdnig-Hoffmann disease (type I), the intermediate form (type II), the Kugelberg-Welander disease (type III), and the adult form (type IV). The gene involved in all four forms of SMA, the so-called survival motor neuron (SMN) gene, is duplicated, with a telomeric (tel SMN or SMN1) and a centromeric copy (cent SMN or SMN2). SMN1 is homozygously deleted in over 95% of SMA patients. Another candidate gene in SMA is the neuronal apoptosis inhibitory protein (NAIP) gene; it shows homozygous deletions in 45–67% of type I and 20–42% of type II/type III patients. Here we studied the SMN and NAIP genes in 92 Algerian SMA patients (20 type I, 16 type II, 53 type III, and 3 type IV) from 57 unrelated families, using a semiquantitative PCR approach. Homozygous deletions of SMN1 exons 7 and/or 8 were found in 75% of the families. Deletions of exon 4 and/or 5 of the NAIP gene were found in around 25%. Conversely, the quantitative analysis of SMN2 copies showed a significant correlation between SMN2 copy number and the type of SMA.

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Section: Discussionsupporting

confidence: 92%

Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy

Sifi

Boulefkhad

et al. 2013

Journal of Neurodegenerative Diseases

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“…Therefore, miR‐4328 could be used as a potential therapy target to prevent cataract. As NAIP has been implicated in several other diseases including SMA, breast cancer, and colonic cancer, it is worthy to analyse the expression of miR‐4328 and to evaluate whether miR‐4328 can be used as the target for disease treatment.…”

Section: Discussionmentioning

confidence: 99%

Retracted: MicroRNA‐4328 promotes lens epithelial cell apoptosis by targeting NLR family, apoptosis inhibitory protein in age‐related cataract

Zhu

Gong²,

Zhao

2019

Cell Biochemistry & Function

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Cataract is the leading cause of blindness in the world while the molecular mechanisms of cataracts pathogenesis are not well elucidated. Dysregulated microRNA (miRNA) expressions have been implicated in cataract. However, the precise role of miR-4328 in cataract is still unknown. We compared the expression level of total miR-4328 between clinical samples from healthy people and cataract patient and between UV-irradiated and control lens epithelial cells. We determined the effect of miR-4328 on lens epithelial cell proliferation and apoptosis by suppressing miR-4328. We further predicted NLR Family Apoptosis Inhibitory Protein (NAIP) as potential target of miR-4328 and continued to evaluate the effects of NAIP on cell proliferation and apoptosis. MiR-4328 was up-regulated in cataract sample and in UVirradiated lens epithelial cells. Suppressing MiR-4328 promoted cell proliferation and inhibited apoptosis. MiR-4328 targeted NAIP and suppressed its expression. Knocking down NAIP abolished the effects of miR-4328 on cell proliferation and inhibited apoptosis. MiR-4328 promotes lens epithelial cell apoptosis by targeting NAIP in age-related cataract. Significance of the study: MiR-4328 targeted NAIP and suppressed its expression. Knocking down NAIP abolished the effects of miR-4328 on cell proliferation and inhibited apoptosis. MiR-4328 promotes lens epithelial cell apoptosis by targeting NAIP in age-related cataract.

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“…This gene is homologous to two baculovirus IAPs (28). NAIP has been linked to the inherited disease, spinal muscular atrophy (SMA), which occurs in children and manifests as a degeneration of the motor neurons (29). NAIP may play a role in the mechanisms of resistance of tumor cells to various chemotherapeutic agents.…”

Section: Introductionmentioning

confidence: 99%

Neuronal Apoptosis Inhibitory Protein is Overexpressed in Patients with Unfavorable Prognostic Factors in Breast Cancer

Choi

Hwang²,

Choi

et al. 2007

J Korean Med Sci

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Neuronal apoptosis inhibitory protein (NAIP) is a recently identified inhibitor of apoptosis protein. However, the clinical relevance of NAIP expression is not completely understood. In an attempt to determine the clinical relevance of NAIP expression in breast cancer, the levels of NAIP and survivin expression were measured in 117 breast cancer samples and 10 normal breast tissues using quantitative reverse-transcriptase-polymerase chain reaction. While there was no evidence of NAIP expression in the normal breast tissue, NAIP was expressed in all breast cancer samples. The level of NAIP expression in breast cancer was significantly higher (257 times) than in the universal tumor control. There was a strong correlation between the level of NAIP expression and the level of survivin expression (p=0.001). The level of NAIP expression in patients with a large tumor (≥T2) and patients with an unfavorable histology (nuclear grade III) was significantly higher than in those patients with a small tumor (T1) and patients with a favorable histology (nuclear grade I, II) (p=0.026 and p=0.050, respectively). Although the level of NAIP expression was higher in patients with other unfavorable prognostic factors, it was not significant. The three-year relapse-free survival rate was not significantly the patients showing high NAIP expression and patients showing low NAIP expression (86.47±4.79% vs. 78.74±6.57%). Further studies should include the expressions of NAIP in a larger number of patients and for a longer period of follow-up to evaluate correlation with metastasis and treatment outcome. In conclusion, NAIP is overexpressed in breast cancer patients with unfavorable clinical features such as stage and tumor size, suggesting that NAIP would play a role in the disease manifestation.

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Study of Survival of Motor Neuron (SMN) and Neuronal Apoptosis Inhibitory Protein (NAIP) gene deletions in SMA patients

Cited by 17 publications

References 26 publications

Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy

Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy

Retracted: MicroRNA‐4328 promotes lens epithelial cell apoptosis by targeting NLR family, apoptosis inhibitory protein in age‐related cataract

Neuronal Apoptosis Inhibitory Protein is Overexpressed in Patients with Unfavorable Prognostic Factors in Breast Cancer

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