Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

Genetic DisorderGenetic disorders are diseases or conditions caused by changes in an individual's DNA. These changes, known as mutations, can be inherited from parents or occur randomly during a person’s life. Some genetic disorders, such as sickle cell anemia and cystic fibrosis, result from single-gene mutations, while others, like Down syndrome, are caused by chromosomal abnormalities. Understanding genetic disorders helps scientists develop medical treatments, improve genetic counseling,...

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...

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