Chapter 14: Chromosome 14 14 A Cell Nucleus 6,683 bp 351 aa EIF2B2 DNA Sequence Chromosome 6,683 bp Name of Protein 14 Name of Gene Eukaryotic translation initiation factor 2B, subunit 2 beta 39kDa EIF2B2 transcription Amino acid sequence mRNA 351 aa translation Cytoplasm A Cell Nucleus What does this protein make up or do? Starts (initiates) and regulates the protein synthesis process. Condition/Disease Leukoencephalopathy with vanishing white matter

Description of Leukoencephalopathy with vanishing white matter (VWM) Symptoms and characteristics VWM causes the EIF2B2 gene to not function correctly. When that happens, cells have a hard time regulating protein synthesis (cells making protein) or dealing with changing conditions/stress. Cells in the white matter (nerve fibers covered in a “fatty substance”) are affected resulting in symptoms At first, there are no symptoms, but psychomotor development (reflexes and intelligence) may be impaired It is hereditary and progresses very slowly. Symptoms include: neurological deterioration, fever, spasticity, lethargy, coma, death, ovary dysgenesis, loss of muscle coordination, all abnormality of the eyes, seizures, and mental impairment. Age progression of white matter - www.elsevier.es Overview of EIF2B2 in cells- en.wikipedia.org

0 dots Very few dots normal Incipient confluence Significant confluence (normal) Normal >65years Abnormal <75 years Never normal

Description of VWM (cont.) Who is affected? It is a hereditary condition, so it runs mainly in families. It has also been shown to worsen dramatically after an infection or head trauma, but you have to have the genetic defect to be affected. Signs are usually seen in children who are developing with the disease, but it has also been seen in the early stages of adulthood Outlook or quality of life Life is much shorter, the average lifespan is about 20-30. The epilepsy that develops can be semi-easily controlled, but there is no cure. Researcher: TD

References NCBI. Proteins on EIF2B2 [cited March 2 2015] Available at URL: http://www.ncbi.nlm.nih.gov/protein?LinkName=gene_protein&from_uid=8892 Genetics Home reference Chromosome 14 [cited March 2 2015] Available at URL: http://ghr.nlm.nih.gov/chromosome/14 Genetics Home reference EIF2B2 [cited March 2 2015] Available at URL: http://ghr.nlm.nih.gov/gene/EIF2B2 Leukoencephalopathy with vanishing white matter symptoms [cited March 2 2015] Available at URL: http://www.ncbi.nlm.nih.gov/gtr/conditions/C1858991/ United Leukodystrophy Foundation [cited March 2 2015] Available at URL: http://ulf.org/vanishing-white-matter-disease