Mutation

causes brain damage and progressive nervous system degeneration. MSUD is caused by mutations in three different genes: BCKDHA, BCKDHB and DBT (Warrell, Cox and Firth, 2012). The BCKDHA gene causes MSUD Type Ia due to the mutation in the E1α subunit, BCKDHB causes Type Ib due to the mutation in the E1ᵦ subunit, and DBT causes Type II due to defect in the E2 subunit (Strauss, Puffenberger and Morton, 2006). Mutations in these genes result in decreased or absent activity of the human…

LEBER HEREDITARY NEUROPATHY PATHOPHYSIOLOGY Three mitochondria mutations contribute to Leber hereditary neuropathy disease. The three mitochondria mutations G11778A, G3460A, T14484C occurs inside of complex 1 Nicotinamide Adenine Dinucleotide ubiquinone oxidoreductase (Chinnery et al., 2001). Complex 1 NADH: ubiquinone oxidoreductase is mainly for the transferring of electrons within the mitochondrial in the respiratory chain (Garmier et.al, 2008). When the respiratory chain is not…

INTRODUCTION Charcot-Marie-Tooth (CMT) disease is the most common inherited neurological disorder, affecting 1 in every 2500 people.1 The disease attacks the peripheral nervous system, progressively reducing nerve conduction speed in the body’s extremities resulting in gradual muscle weakness, sensory loss, and muscle atrophy.2 Affected individuals in the initial stages of the disease suffer from feet and hand deformities that limit function and sensation. Moreover, in advanced cases patients…

Genetic engineering is known for it 's potential of saving lives in situations doctors have no control over and with recent developments in has made its way toward saving children before birth. It also allows people a cost effective way to be able to help increase a child 's circumstances at birth while they are still an embryo but at what cost. Just like any new technological breakthrough there are people who are taking advantage of this new technology that should require the government to…

system (i.e. the immune system becomes susceptible to infections, improper clotting, etc.). The cause for the excessive production of cells is unknown but risk factors that can make children more susceptible to this disease involves various genetic mutations such as: Down syndrome, Neurofibromatosis type 1, mismatch repair deficiency…

Klippel-Feil Syndrome: An Overview According to the National Organization for Rare Disorders (2016), Klippel-Feil syndrome (KFS) is a rare disorder of the skeletal system characterized by cervical spine fusion of two or more vertebrae. The disorder was first documented in 1912 by two doctors Maurice Klippel and Andre Feil (NORD, 2016). Individuals with KFS often exhibit the hallmark features such as a short neck, low hairline, and limited neck mobility. Additional associated malformations may…

intracellular molecules of signaling pathways. Cancer can occur whenever a mutation alters any of these genes. These mutations can be random and spontaneous, however they can also be caused by environmental factors such as chemicals, radiation, and X-rays. Oncogenes are mutated genes that play a role in transforming a normal cell into a cancerous tumor cell. Proto-oncogenes are normal genes that become oncogenes when mutations cause them to be…

Introduction Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder also know as phenylketonuria (PKU). (1,2,3) This disease results from mutations in the phenylalanine hydroxylase gene, making the body unable to utilize the amino acid phenylalanine properly. (1) Phenylalanine hydroxylase converts phenylalanine to tyrosine. Without adequate phenylalanine hydroxylase levels, phenylalanine accumulates which can lead to toxic levels in the blood. Buildup of phenylalanine can…

been mutated, it produces an unreliable protein that predisposes the breast to cancer. Even though not everyone with BRCA1 or BRCA2 form cancer , people with these gene mutations should seek the best preventative treatments to eliminate their high risk of breast cancer because there is a distinct connection to people with this mutation that have also contracted cancer. Just one inherited, mutated gene greatly increases the risk of cancer. In the first article, Breast Cancer: Knocking out a…

There are no relevant risk factors associated with Progeria but researchers have discovered that Progeria is caused by a genetic mutation in the LMNA gene which is necessary to produce Lamin A, a protein that helps maintain the structure of the nucleus in a cell. Due to this defection Lamin A cannot do it’s job properly and the nucleus is unstable. When comparing the structure of a…