Unravelling the Genetic Factors In the Pathogenesis of Amyotrophic Lateral Sclerosis (ALS)  

Oleh:

Muthmainah

Jenis: Article from Journal - ilmiah nasional - tidak terakreditasi DIKTI
Dalam koleksi: Cermin Dunia Kedokteran vol. 44 no. 02 (Feb. 2017), page 104-107.
Topik: ALS; Genetic; TDP-43 Protein
Fulltext: C04 v44 n2 p104 kelik2017.pdf (146.88KB)

Ketersediaan

Perpustakaan FK Nomor Panggil: C04.K Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Progressive degeneration of the large motor neurons in the brain and spinal cord is a common finding in Amyotrophic Lateral Sclerosis (ALS). Several factors considered to underlie the disease have been proposed including genetic and environmental factor. Genetic factor have been well known to be highly implicated in the pathogenesis of ALS. Today, more than 20 genes contribute to the development of ALS. The pathologic hallmark of ALS is the accumulation of ubiquitinated protein aggregates. TDP-43 (TAR DNA binding protein, 43 kD) encoded by TARDBP gene was found to be the major component of these aggregates in most patients. Disruption of RNA binding capacity of TDP-43, either in the presence or absence of mutations will lead to the dysregulation of its targeted RNAs. Misregulation of RNAs regulated by TDP-43 is possibly a major cause of the disease.

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