How do mutations in genes cause genetic disorders?

Answer 1

Mutates is the simple answer. The mutation would have to cause significant changes resulting in either a loss of function or a novel function that causes distress or a risk to the well being of individual.

Answer 2

Mutations in genes can disrupt the normal function of proteins encoded by those genes, leading to genetic disorders. These disruptions can alter essential processes in cells, impairing their ability to function properly. In some cases, mutations can cause a loss of function or a gain of a new function that is detrimental to the individual.

Answer 3

Genetic diseases are caused by a few things. Put very simply, they are caused by mutated genes that cannot function properly and lead to problems that effect your health. Most are caused by insertions of "junk" DNA into one of your genes, the loss of a gene or gene function, the loss of a whole chromosome or chromosomal arm (which can have many genes within them that get lost along with the chromosome) and sometimes you can have extra gene copies. Normally, these problems are inherited from one of your parents, you get 2 copies of your DNA, one from each of your parents. Genetic diseases can also be caused by damage to your DNA (which makes up the genes) that can happen over your life by things like UV damage from the sun and X-rays.

Answer 4

As genes code for proteins, many of which are essential to life, a defect in a gene could result in a deficiency or complete lack of a protein. This may be as small as one single nucleotide mutation, or may be a genetic defect involving an entire chromosome.

-Duchenne Muscular Dystrophy, for example, could occur due to a whole range of defects in the gene that codes for the protein dystrophin, a large rod-shaped protein in muscle fibers. Individuals with DMD therefore are prone to crippling muscular problems.

-Albinism involves a defect in the gene coding for the pigment melanin. In people with a normal gene for melanin, this protein is produces in the skin, eyes and hair, giving the range of yellows and browns we are familiar with. People with Albinism, however, have white skin with blue eyes and white/blonde hair because they lack the genetic instructions to make this pigment.

-Downs Syndrome is a condition involving a genetic defect of an entire chromosome. During gametogenesis, the mother's egg or father's sperm incorrectly inherits two copies of chromosome 21 during meiosis. When the two gametes fuse, the resulting cell therefore has 3 copies of chromosome 21, whereas healthy humans only have 2 copies of each. This can result in over-production of certain proteins, slowed or inhibited cellular replication, etc.

It is also important to remember that many genetic defects result in the fetus dying long before being born. Many defects cause essential proteins to be unable to be synthesised, or may otherwise inhibit this important growth phase, resulting in a miscarriage. Relatively few major genetic defects actually result in birth. Genetic 'mistakes' are of course essential and normal in the process of evolution. Sometimes good mutations occur, but often the mutations are bad.

Answer 5

DNA is the code for life, the blueprint for building an animal (human). If there is an error in that code then the animal (human) may not function properly and that is called a genetic disorder.

Answer 6

Cystic Fibrosis,Huntington's disease

Answer 7

what genetic mutation often lead to a disease

Answer 8

genes causes diseases by faulty genes

Answer 9

some mutations cause diseases.

Answer 10

The gene is mutated.