Lorenzo's Oil

De novo mutations account for 80-90% of all cases of ACH (1, 4, 7, 8, 11). Recent research has determined that increased paternal age correlates to this specific mutation occuring (4, 7, 11, 19). The maternal age seems to have no effect, meaning that the de novo mutation occurs during spermatogenesis (20). This has also been studied and each affected individual was found to have received the mutated chromosome paternally (21). There has only been one documented case of an

The mother, who is a carrier, inherits an X-Linked or sex-linked faulty gene. The result is producing an affected son and or a daughter being a carrier. The second way is an affected male producing children, particularly daughters. All daughters born to fathers with x-linked muscular dystrophy will be carriers; on the contrary their sons will be unaffected. Scientists link this to a genetic mutation in the gene, appearing most often for the first time in a family.

Females are carriers in their X-Chromosome and they have the chance of passing the disease on to their children, 50-50 to a girl and 50-50 to a boy. If the girl does receive the gene she becomes a carrier. If the boy gets the gene then he has the disease. Males do not pass on the gene to their children because they pass on the Y-chromosome and the disease is X specific. Some female carriers have indicators of being a carrier by having symptoms of cardiomyopathy, shortness of breath during exercise, and muscle weakness in the back, arms, and legs. There have been very rare instances where a girl has not received a

This disease is genetically inherited and is a dominant characteristic, therefore unfortunately the offspring of a victim has 50% chance of inheriting the disease.

One in every 2,500 births a child with CF is born. Approximately 3,000 people in Australia have CF. With the discovery of the CF gene in 1989 it is now possible to test to see if you are a carrier. This is not a simple matter though there is one most common gene for CF, there are over 900 mutations of the gene. Because of this, carrier testing is usually offered only to those people who have a family history of CF.

Your health care provider can diagnose AAT deficiency with a blood test or a DNA sample from your mouth. He or she may order additional tests, such as:

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Director George Miller is a great story teller of the real life story Of Lorenzo Odone. Lorenzo’s is a little boy that at a very young age is diagnosis with adrenoleukodystrophy (ALD). Parents Augusto and Michaela Odone, devastated as any parents would decide right then they would take action. They started to research in addition to seeking out the best doctors they could find that had knowledge of this rare disease that their son inherited. Their quest was stressful waiting on month blood work results, scary knowing there is no cure for this disease, hopefully that their son will get better. With help of family as well as friends they got through many struggles financially, personally in their marriage and over all the fight for their son Lorenzo’s.

Duchenne Muscular Dystrophy has the potential to be inherited from previous generations (National Human Genome Research Institute, 2013). The disease is sex-linked and inherited on the X chromosome in a recessive fashion. Males who only have one X and one Y chromosome

If the disease is of the homozygous variety in a person it occurs in 1 in every 10,000 people. If the disease is heterozygous then in is found between 1 in every 5,000 people and 1 in every 15,000 people. It is more common in Venezuela then anywhere else, although it is discovered in about 240 people per year in the United States. A DNA marker G8 (D4S10) is closely linked to HD and has been identified as being on the # 4 chromosome and can detect Heterozygotes. (Encarta Encyclopedia) The connection between G8 and HD has not been clinically used because it’s a very serious disease. Theoretically a homozygote can be detected parentally. If a female has a child and she is tested positive for HD and has no history of it, then the father as well as the child a bound to end up with the disease. (Textbook

Adrenoleukodystrophy is a genetic disease that is passed on from mother to son. ALD is an X-linked disorder. That means it affects only males and is transmitted by a female carrier. This disorder is called X-linked since the genetic abnormality involves the X-chromosome. Women have two X-chromosomes while men only have one. In women, the affected X-chromosome, the one with the gene for ALD does not become active because of the presence of a normal copy of the gene on the other X-chromosome. Men have one X-chromosome and one Y-chromosome. In men who have an X- chromosome for X-ALD, there is no other X- chromosome for protection.

In the novel Me And You by Niccolò Ammaniti, Lorenzo, the fourteen years old boy is unable to care for people except his parents. From Lorenzo 's point of view, he camouflages among his peers to get through his life. Even though he claims that he is superior and unique than the others, deep down it is a lie that he tells himself to protect his self-esteem from the fact that he can not make friends as an outcast. After spending time with the unexpected visitor, who is his half-sister Olivia, Lorenzo experiences sympathy and love for the others for the first time. Lorenzo transformed from a boy who runs away from his problems to a teenager who is able to take care for the others and brave enough to step out for his own life all due to his time together with Olivia. On the whole, Lorenzo is trapped by his narcissistic personality disorder that he can not understand his needs for friends and community until his half sister taught him how to love and be loved outside of his circle over an accidental encounter in the basement.

Many different mutations are can be responsible for development of ALD. “more than 1,200 ABCD1 gene mutations

The gene carrying the defect that produces albinism is recessive, which means that both parents must carry this recessive gene in order to produce a child with the condition. When both parents carry the gene (and neither has albinism), there is a one in four chance with each pregnancy that their child will have albinism. The inheritance pattern of ocular albinism is alittle different. This condition is X-linked, meaning that the recessive gene for ocular albinism is located on the X chromosome. X-linked ocular albinism appears just about only in males who inherit the condition from their mothers.

    SCID’s are a rare genetic disorder estimated to affect between 1 in 200,000 and 1 in 1,000,000 live births (it is difficult to