Mutation rate

“A Powerful New Way to Edit DNA” tells the beginning of gene editing. It all starts with Japanese scientist noticing unusual repeated DNA sequences. This later helped scientist to realize that DNA could be edited. Within this article it talks about different discoveries about genome editing and also has an educational image of Crispr editing. This article answers the questions of what is gene editing, what it might treat and the biggest hurdle. Also the ethnic controversy, if it is legal and…

is made up of 37 genes that are inherited only from our mother’s DNA, and as with the human genome, genetic mutations within the mitochondrial DNA are possible. A mother can easily pass any mitochondrial DNA mutations to her offspring. Certain mutations can cause rare, devastating diseases like LHON, Pearson Syndrome, and Leigh Syndrome. Scientists have also linked mitochondrial DNA mutations to more common diseases such as diabetes, Alzheimer’s disease, and Parkinson’s disease (SciShow). The…

Description: Phenylketonuria, also known as PKU, is a genetic disorder caused by the mutation of the PAH gene. The PAH gene is responsible for creating the enzyme phenylalanine hydroxylase. This enzyme breaks down the amino acid phenylalanine into tyrosine for the body. This mutation causes the PAH gene to not break down the phenylalanine and because so, dangerous and toxic levels of phenylalanine can build up in the blood, brain, and other organs and tissues. Without being able to digest…

Having freckles is a common and harmless condition that is shared among many people around the world. Freckles are passed down genetically, and are a dominant trait. They are most common and most easily seen on fair skinned people. Many people with freckles notice that their freckles become darker after being out in the sun. This is because freckles are basically clumps of melanocytes, and the sun's ultraviolet rays cause melanocytes to create more melanin, making the freckles darker. Now,…

distinctive facial features including a broad, prominent forehead; deep-set eyes; and a small, pointed chin” (NIH, 2016). This disease is associated with other diseases such as pulmonic stenosis and tetralogy of Fallot. “In more than 90 percent of cases, mutations in the JAG1 gene cause Alagille syndrome. Another 7 percent of individuals with Alagille syndrome have small deletions of genetic material on chromosome 20 that include the JAG1 gene. A few people with Alagille…

regulates cellular proliferation and growth. E6-AP also plays a significant role in the clearance of mutant misfolded proteins linked with various neurodegenerative diseases. (B) Mahogunin functions as a RING finger E3 ubiquitin ligase; and null mutation in mahogunin is linked with spongiform neurodegeneration. Our studies reveal the potential roles of MGRN1 as a QC E3 ubiquitin ligase involved in the elimination of mutated proteins linked with polyglutamine and ALS neurodegenerative diseases.…

This paper explores four published articles and four internet websites pertaining to Phenylketonuria. In this paper Phenylketonuria causative mutations, signs and symptoms along with treatment and long term prognosis are discussed to help individuals better understand Phenylketonuria and its effects on our population. Increasing public awareness towards Phenylketonuria can help lead to further research in hopes of medical advancements and encourage newborn screening in under developed countries.…

been identified. The chromosomal band breakpoints occur between 5p15.2-5p15.3 (3). Although, there is evidence that the size of the deletion ranges from the entire short arm to the region 5p15 with size ranging from 5 to 40 Mb (5). The chromosome mutation can occur as a terminal or interstitial…

Lmna Mutations and HGPS Collins and his team of researchers decided to screen 23 affected individuals for mutations of the Lmna gene. They chose the Lmna gene due to its involvement in a wide spectrum of heritable disorders including Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, and Charcot-Marie-Tooth disease (“Lmna”). The decision to screen the Lmna gene definitely paid off, as three different mutations were discovered. The mutations…

Turner syndrome is a genetic condition caused by the absence of all or parts of the second sex chromosome. This condition only affects women and girls because the X-chromosome is missing or partially missing or rearranged. X-chromosome monosomy, X-chromosome mosaicism, and X-chromosome defects are common causes of the absence or alterations of the X-chromosome. Monosomy X occurs in about half of the girls with Turner syndrome. This means that each cell in each of their bodies has only one copy…