*** Need extreme detail! A woman and her partner recently went to the doctor to discuss getting pregnant. The doctor ordered tests on her egg cells and on the sperm cells of the partner. The results showed that there is a risk for their child to inherit Leigh Syndrome. You have been tasked with figuring out a way to get rid of the syndrome from their gametes in order to produce a child without Leigh Syndrome.
Leigh Syndrome is a neurological disease that usually is seen in infants during their first year of survival. This condition involves loss of mental abilities and movements that keeps on decreasing as the life progresses. Such a condition results in the death of the infant within two to three years of its birth, which is generally due to asphyxia (lack of breath). Some of the individuals do not develop symptoms until they are adults and the condition keeps on getting worse as an individual with such a syndrome grows up. The early signs of Leigh syndrome are visible in the first year of birth which usually includes vomiting, diarrhea and dysphagia (difficulty in swallowing) and hence destroys eating. Thus, leading to a redundant growth and such an individual does gain much weight which deteriorates the health further and makes immune system weak. This further leads to severe issues with movements. The individuals affected with this disease have weak muscle tone, spontaneous muscle contractions and problems with balancing the body. Further sensations of the limbs gets loosened up. Further symptoms may include paralysis of eye muscles, damage of nerves that carry information from the eyes to the brain and respiratory failure.
Leigh syndrome is generally caused by the mutation of some of the genes in the body. In a human body, genes are present in the DNA (present in the nucleus of the cell). Further, certain genes are present in specialized structures called as mitochondria. Such DNA is known as mitochondrial DNA. A large number of people infected with this disease has a mutation in the nuclear DNA, a very small amount of people infected with this disease has a mutation in the mitochondrial DNA. Genes that are associated with the this syndrome are responsible for energy production in mitochondria. Mitochondria further conducts oxidative phosphorylation where it converts energy from food into a form that can be utilized by the cells. The most common mtDNA mutation in Leigh syndrome infects the MT-ATP6 gene, which gives instructions to make a piece of complex V, also called the ATP synthase protein complex. Mitochondria is an important organelle in eukaryotic cells. Its function is to convert the potential energy of glucose, amino acids, and fatty acids into adenosine triphosphate (ATP), and this process is called oxidative phosphorylation, as mentioned above.
Leigh syndrome can have various distinguish inheritance patterns. It is generally inherited in an autosomal recessive pattern, where both copies of the gene in each cell have mutations. Such patterns can be applied to genes that are present in nuclear DNA, including SURF1. The parents of infected individual with an autosomal recessive condition each have one copy of the mutated gene, but they typically do not show symptoms of such carriers.
The most familiar treatment of this syndrome is thiamine or Vitamin B1. Oral sodium bicarbonate or sodium citrate may also be taken in order to manage lactic acidosis. Testing of dichloroacetate tis under reasearch in order to establish its effectiveness in treating lactic acidosis.
*** Need extreme detail! A woman and her partner recently went to the doctor to discuss...