User:Eda2y/sandbox

Possible Topics:

1).C4b Binding protein. This is a protein involved in the body's immune system and its ability to produce antibodies, it acts as an inhibitor.The main form of the C4b protein is found in blood and has a central stalk surrounded by 7 alpha and a beta chain.This form of C4b inhibits the binding of C4 to lectin pathways and it can also bind C3b.C4b allows for "clean up" after an injury. Wiki article explain what it is, good topic to go into further detail on.

2). Epidermal differentiation complex.This is a complex of 50 genes involved in the differentiation and cornifitcaion of keratinocytes, the main cell in epidermis. These 50 genes are separated in to 3 groups cornified envelope precursor family, the S100 protein family and the S100 fused type protein family. Wiki article explain what it is, good topic to go into further detail on.

3)Prame Family member 10.protein in humans that codes for PRAMEF10 genes. existining wiki article is a sentence a good topic to write on if journals about it can be found.

Topic chosen: Twnk gene, Twinkle, twink protein.

Overview at least 500 words:

The mitochondria is a cellular organelle that helps the cell convert oxygen to ATP, energy for the cell. The Mitochondria is a unique organelle in that it has its own genome, which contains the mitochondrial DNA called mtDNA (Pohjoismaki J. L., Forslund J. M., Goffart S., & Wanrooij S. 2018). The mitochondria generate ATP energy from food through a process called oxidative phosphorylation (OXPHS). Which involves the flow of electrons from NADH or FADH2 to oxygen with protein complexes located in the mitochondrial inner membrane which then pumps the protons out of the mitochondria, ATP is created when the protons flow back into the mitochondria with the help of an enzyme complex (Berg, J. M., 1970). This is the primary source of ATP in eukaryotic cells, it is comprised of five enzymes complexes that help transport electrons to produce the ATP. The mitochondria functions as a network comprised of genes, enzymes, and proteins that all work together (Li, Y., Zhang, R., Liu, S., Donath, A., Peters, R. S., Ware, J., Zhou, X. 2017). It is estimated to contain 1500 proteins that allows the mitochondria to function few of which come from the mitochondria genes. Which means most of these proteins are coded for by nuclear genes, not the mitochondria genes. The TWNK gene in specific is a nuclear gene that encodes for two of the proteins, Twinkle and Twinky (El-Hattab, A. W., Craigen, W. J., & Scaglia, F., 2017). These proteins function as a 5’-3’ DNA helicase, which is required for the disruption of hydrogen bonds allowing for the temporary unwinding and separation of the mtDNA (El-Hattab, A. W., 2017). The genes cytogenetic location in humans is 10q24.31 which means this gene is located on the long arm of chromosome 10 at position 24.31 (TWNK gene, N.D). The TWNK gene is also known as C10orf2, PEO1, T7-like mitochondrial DNA helicase and twinkle, however TWNK is its most common name (TWNK gene, N.D). The proteins the TWNK gene encodes for play a key role in mtDNA replication, the proteins localize to the mitochondria matrix and mitochondrial nucleoids, which means any mutations in the genes will have a big effect on the organism. The mutations of this gene means that the mtDNA is not replicated correctly, which can lead to deleted, substituted, and addition of nucleoids in the segments the proteins are trying to replicate. This can lead to the cell not being able to produce ATP effectively causing many problems. One of the most known mutations of this gene is the cause of infantile onset spinocerebellar ataxia or IOSCA (WNK twinkle mtDNA helicase [Homo sapiens (human), N.D). IOSCA is a neurodegenerative disease that starts to show in children around one year of age. This disease causes onset of ataxia, muscle hypertonia, loss of deep-tendon reflexes, and athetosis and later on in the child’s life hearing loss, psychotic behavior, sensory axonal neutrophil ataxia, and even more neurological development problems (Lönnqvist T., 2009). Basically, this is a disease that up until age one a child develops normally and then the child starts to experience neurological deficits. This is not the only diseases caused by the mutation of TWNK gene, but a mutation in the TWNK gene is rare and because of this a lot is unknown about the diseases it causes.

References:

El-Hattab, A. W., Craigen, W. J., & Scaglia, F. (n.d.). Mitochondrial DNA maintenance defects. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1863(6), 1539–1555. https://doi.org/10.1016/j.bbadis.2017.02.017

Berg, J. M. (1970, January 01). Oxidative Phosphorylation. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK21208/

TWNK gene - Genetics Home Reference - NIH. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/TWNK#resources

TWNK twinkle mtDNA helicase [Homo sapiens (human)] - Gene - NCBI. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=DetailsSearch&Term=56652

Lönnqvist T. Infantile-Onset Spinocerebellar Ataxia. 2009 Jan 27 [Updated 2018 Apr 19]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.