This occurs when one nucleotide base is substituted for another in a DNA sequence. The change can cause the wrong amino acid to be produced. In some cases, the change has little effect. If this was a DNA sequence, a change in one codon might not cause problems.

Free Response. Explain what happens if even one amino acid is substituted for another in a polypeptide chain. A change in gene sequence can lead to a different amino acid being added to a polypeptide chain instead of the normal one. This causes a change in protein structure and function.

Frameshift mutations The outcome of a frameshift mutation is complete alteration of the amino acid sequence of a protein. This alteration occurs during translation because ribosomes read the mRNA strand in terms of codons, or groups of three nucleotides. These groups are called the reading frame.

The amino acid change may alter the function of the protein. A nonsense variant is another type of substitution. Instead of causing a change in one amino acid, however, the altered DNA sequence results in a stop signal that prematurely signals the cell to stop building a protein.

KAT6A syndrome is an extremely rare genetic neurodevelopmental disorder in which there is a variation (mutation) in the KAT6A gene. Variations in the KAT6A gene can potentially cause a wide variety of signs and symptoms; how the disorder affects one child can be very different from how it affects another.

RPI deficiency According to the Journal of Molecular Medicine, Ribose-5 phosphate isomerase deficiency, or RPI Deficinecy, is the rarest disease in the world with MRI and DNA analysis providing only one case in history.

• Water allergy.
• Foreign accent syndrome.
• Laughing Death.
• Fibrodysplasia ossificans progressiva (FOP)
• Alice in Wonderland syndrome.
• Porphyria.
• Pica.
• Moebius syndrome. Moebius is extremely rare, genetic and characterized by complete facial paralysis.

They called the disease kuru, which means “shivering” or “trembling.” Once symptoms set in, it was a swift demise. They’d also lose control over their emotions, which is why people called it the “laughing death.” Within a year, they couldn’t get up off the floor, feed themselves or control their bodily functions.

Cannibalism is very much still alive today despite being considered repulsive by the vast majority of societies. There are, however, areas where eating human flesh is ingrained in tradition and a part of the culture.

You can contract the disease by eating an infected brain or coming into contact with open wounds or sores of someone infected with it. Kuru developed primarily in the Fore people of New Guinea when they ate the brains of dead relatives during funeral rites.

The abnormal folding of the prion proteins leads to brain damage and the characteristic signs and symptoms of the disease. Prion diseases are usually rapidly progressive and always fatal.

All known prion diseases in mammals affect the structure of the brain or other neural tissue; all are progressive, have no known effective treatment, and are always fatal….Transmissible spongiform encephalopathies.