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What does the C9orf72 gene do?

What does the C9orf72 gene do?

The C9orf72 gene provides instructions for making a protein that is found in various tissues. The protein is abundant in nerve cells (neurons) in the outer layers of the brain (cerebral cortex) and in specialized neurons in the brain and spinal cord that control movement (motor neurons).

What is TDP 43 pathology?

TDP-43 is the pathological protein in ALS and FTLD-U A significant proportion of ALS patients develop cognitive deficits, often with prominent frontal lobe features [5], and are found to have additional ub-ir NCI and neurites in the frontotemporal neocortex and hippocampus [6,7].

How does SOD1 cause ALS?

The major effect of SOD1 mutations in ALS is linked to the protein aggregation and a prion-like propagation of misfolded molecules. These mutations may also lead to a loss of function of SOD1 by affecting its structure and/or interactions pattern.

What is C9orf72 ALS?

The 2011 discovery of the pathogenic hexanucleotide repeat expansion (HRE) in C9orf72, the leading genetic cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), marked a breakthrough in the effort to unravel the etiology of these conditions.

What chromosome is C9orf72 gene on?

The human chromosome 9 open reading frame 72 (C9ORF72) locus is located on the reverse strand of chromosome 9 (41 kb). It includes two non-coding exons (1a and 1b) and 10 coding exons (from 2 to 11) and gives rise to three coding variants (Figure 1A).

What causes TDP-43 Mislocalization?

TDP-43 misregulation through genetic manipulation of the NLS, presence of an ALS-causing mutation, or overexpression result in an increased localization to mitochondria [28].

What is SOD1 and what is its role in ALS?

Abstract. The canonical role of superoxide dismutase 1 (SOD1) is as an antioxidant enzyme protecting the cell from reactive oxygen species toxicity. SOD1 was also the first gene in which mutations were found to be causative for the neurodegenerative disease amyotrophic lateral sclerosis (ALS), more than 20 years ago.

What is ALS FTD?

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two diseases that form a broad neurodegenerative continuum. Considerable effort has been made to unravel the genetics of these disorders, and, based on this work, it is now clear that ALS and FTD have a significant genetic overlap.

What type of protein is C9ORF72?

C9ORF72 Is a DENN Protein Regulating Rab-GTPases DENN proteins comprised an N-terminal longin domain, followed by DENN and C-terminal alpha domains (Zhang et al., 2012). These three domains encompass aa 23–150, 212–312, and 313–481 of the human C9-long isoform (Xiao et al., 2016).

How common is FTD in amyotrophic lateral sclerosis?

Frequency of FTD clinical features in ALS varies in the literature but, currently, it is accepted that some symptoms of FTD can be detected in up to 50% of ALS patients [20, 27, 28, 29, 30]. The clinical overlap between FTD and ALS is also reflected in neuropathology.

What are the inclusion bodies of bacteria?

Many bacteria can accumulate various inclusion bodies such as glycogen, polyamino acids, polyphosphate and polyhydroxyalkanoates (PHA) etc. (Shively et al., 2001). These inclusion bodies play significant roles for cell physiology; they could also find industrial applications.

What is frontotemporal dementia (FTD)?

Frontotemporal dementia (FTD) (otherwise known as behavioral variant FTD or bv-FTD) represents a vast subgroup within the broad spectrum of neurological disorders that constitute FTLD. Amyotrophic lateral sclerosis (ALS) has mainly been described as a neurological disorder that affects the motor system,…