GNE myopathy: new name and new mutation nomenclature

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...

Overview

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...

During the development of a new pharmaceutical, the manufacturer initially assigns a code name to the drug. Once approved, the drug receives a United States Adopted Name (USAN)—a generic, nonproprietary designation. Upon being listed in the United States Pharmacopeia, this nonproprietary name becomes the drug's official name. Additionally, the manufacturer assigns a proprietary name or trademark, which serves as the brand name under which the drug is marketed. It is worth noting that...

Primary, secondary, and tertiary amines are compounds consisting of one, two, and three alkyl groups connected to the amino group (–NH2), respectively. As depicted in Figure 1, the common name of the primary amines is obtained by adding the suffix -amine to the alkyl substituent attached to the amino group as the corresponding alkylamine.