Kaohsiung Medical University

China Medical College Hospital

Yuh-Jyh Jong

Jan-Gowth Chang

Shou-Mei Wu

Chun-Chiu Wang

Fuu-Jen Tsai

Shih-Hsien Hsu

Yung-Fu Chang

Ting-Yuan Liu

The present invention relates to a method of regulating the expression level of survival of motor neuron 1 (SMN1) comprising administering to a subject in need thereof a therapeutically effective amount of ubiquitin carboxyl-terminal hydrolase L1 (UCHL1) regulator and a pharmaceutically acceptable carrier. The present invention also relates to a method of detecting enzyme activity of ubiquitin carboxyl-terminal hydrolase L1 (UCHL1) in human fibroblasts comprising detecting protein expression level of survival of motor neuron 1 (SMN1).

Method of regulating the expression level of survival of motor neuron 1

A nucleic acid construct comprising a genetic engineered heterogeneous nuclear ribonucleoprotein (hnRNP) A1 gene is provided. A transgenic mouse in which the expression of hnRNP A1 gene has been disrupted is also provided. The mouse is useful for studying the role of hnRNP A1 gene in normal and disease states of a developmental disorder and muscular diseases. Therefore, a method of screening a compound for potential use in prevention and/or treatment of developmental disorder and muscular diseases is further provided.

hnRNP A1 knockout animal model and use thereof

A method for diagnosing spinal muscular atrophy is provided. The method includes providing a biological sample of a subject containing a nucleotide of SMN gene, amplifying SMN exons, andby a universal multiplex PCR using the nucleotide as a template and the primers to obtain fragments of the SMN exons, and, labeling the fragments of the SMN exons, andby a fluorescent primer to obtain fluorescence-labeled exon fragments, and analyzing the fluorescence-labeled exon fragments by a capillary electrophoresis. If the SMN1/SMN2 ratios in exonandare different, it indicates that the subject is susceptible to spinal muscular atrophy. Additionally, if the peak of certain exon fragment appears crossed, it indicates an intragenic mutation in the exon.

Method for diagnosing spinal muscular atrophy

A method for diagnosing spinal muscular atrophy is provided. The method includes providing a biological sample of a subject containing a nucleotide of SMN gene, amplifying SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8 by a universal multiplex PCR using the nucleotide as a template and the primers to obtain fragments of the SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8, labeling the fragments of the SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8 by a fluorescent primer to obtain fluorescence-labeled exon fragments, and analyzing the fluorescence-labeled exon fragments by a capillary electrophoresis. If the SMN1/SMN2 ratios in exon 7 and 8 are different, it indicates that the subject is susceptible to spinal muscular atrophy. Additionally, if the peak of certain exon fragment appears crossed, it indicates an intragenic mutation in the exon.

The invention features a method of modulating SMN exon 7 expression in a subject by administering hydroxyurea to the subject.

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Kaohsiung, Taiwan

Yuh-Jyh Jong