VALENTINA DUQUE CANO

DNA structure, genes and its chemical composition

DNA structure,

genes and its

chemical

composition

By: Valentina Duque Cano

MOLECULAR BIOLOGY

MEDICAL UTILITY BIBLIOGRAPHY

*University of Massachusetts

Medical School. (2016, July 25).

New gene variants present in

three percent of all ALS patients:

Largest-ever study of inherited

ALS identifies new ALS gene,

NEK1. ScienceDaily. Retrieved

August 2, 2016 from

www.sciencedaily.com/releases/2

016/07/160725151246.htm

*King's College London. (2016,

July 19). Scientists predict

academic achievement from DNA

alone. ScienceDaily. Retrieved

August 2, 2016 from

www.sciencedaily.com/releases/2

016/07/160719091622.htm

*Martínez Sánchez, Lina María.

Biología molecular. 8.ed. Medellín:

UPB. Fac.Medicina.

Its very important to know the

structure of DNA and its

components because there is all the

genetic material of an organism,

from the knowledge of a normal

DNA with its genetic material, we

can identifiy specific mutations in

the genome thanks to the new

techniques and advances in the

field of biology and medicine, two

areas that are closely related in

preventing the population from

future diseases, which have a

predisposition like timely

identifying the illness of a patient to

a treatment that is focused on the

mutation, drug development to

improve the quality of life of a

patient, and implementing

techniques to treat a specific

mutation.

The knowledge of the structure of

nucleic acids begins in the XIX

century, with the isolation within the

cell nucleus of a nuclein formed by an

acid part and a basic part.

In 1952 Oswald T. Avery, Colin

MacLeod and Maclyn McCarty

concluded that DNA was responsible

of the genetic information.

In 1953 James D Watson and Francis

Crick proposed the double strand

DNA structure.

It has different structural levels:

primary, secondary and superior

order structure.

INTRODUCTION.

Scientists have used a new genetic scoring technique to predict academic achievement from DNA alone.

Variations in a gene with multiple functions in neurons are present in approximately 3 percent of all cases of Amyotrophic lateral sclerosis.

People with many single nucleotide polymorphisms related to academic achievement will have a higher polygenic score and higher academic achievement, whereas people with fewer associated SNPs will have a lower score and lower levels of academic achievement.

I think this is a big advancement in science that can help identify children who are at risk of having learning difficulties, and thus, to work on this sincechildhood and alsodevelop a more

specific treatment.

ALS is a progressive neurodegenerative disease, 10 percent of is genetic. The new gene, called NEK1, was discovered through a genome-wide search for ALS risk genes in more than 1,000 ALS families and is known to have multiple roles in neurons.

It is very important to identify this because it helps to develop drugs that can inhibit the effect and also advise families when it is possible to have children with this disease. Also it can focus specifically on what is wrong in the gene and find a way to mitigate its effect and avoid catastrophic signs and symptoms of the disease.

INTRODUCTIONThe knowledge of the structure of

nucleic acids begins in the XIX

century, with the isolation within the

cell nucleus of a nuclein formed by an

acid part and a basic part.

In 1952 Oswald T. Avery, Colin

MacLeod and Maclyn McCarty

concluded that DNA was responsible

of the genetic information.

In 1953 James D Watson and Francis

Crick proposed the double strand

DNA structure.

It has different structural levels:

primary, secondary and superior

order structure.

INTRODUCTION

• Acid component: Phospates

• Neutral component: Sugar

• Basic component:Nitrogenous bases

.

Scientists have used a new genetic scoring technique to predict academic achievement from DNA alone.

People with many single nucleotide polymorphisms related to academic achievement will have a higher polygenic score and higher academic achievement, whereas people with fewer associated SNPs will have a lower score and lower levels of academic achievement.

I think this is a big advancement in science that can help identify children who are at risk of having learning difficulties., and thus, to work on this sincechildhood and alsodevelop a more

specific treatment.

Calculating the individual's polygenic score help find specific genetic variants linked to academic achievement.

The research shows that a genetic score comprising 20,000 DNA variants explains almost 10 per cent of the differences between children's educational attainment at the age of 16.

Calculating an individual's polygenic score requires information from a genome-wide association study that finds specific genetic variants linked to academic achievement. In a polygenic score, the effects of the single nucleotide polymorphisms (SNPs) are weighed by the strength of association and then summed to a score. People with many SNPs related to academic achievement will have a higher polygenic score and higher academic achievement, whereas people with fewer associated SNPs will have a lower score and lower levels of academic achievement.

• Their findings show that what makes students achieve differently in their educational achievement is strongly affected by DNA differences; on average those with a higher polygenic score would obtain a grade between A and B, whereas those with a lower score obtained an entire grade below in terms of GCSE scores at age 16.

…

I think this is a big advancement in science that can help identify children who are at risk of having learning difficulties and thus, to work on this since childhood and also develop a more specific treatment.

Variations in a gene with multiple functions in neurons are present in approximately 3 percent of all cases of Amyotrophic lateral sclerosis

ALS is a progressive neurodegenerative disease, 10 percent of is genetic. The new gene, called NEK1, was discovered through a genome-wide search for ALS risk genes in more than 1,000 ALS families and is known to have multiple roles in neurons.

It is very important to identify this because it helps to develop drugs that can inhibit the effect and also advise families when it is possible to have children with this disease. Also it can focus specifically on what is wrong in the gene and find a way to mitigate its effect and avoid catastrophic signs and symptoms of the disease.

Amyotrophic lateral sclerosis is a progressive neurodegenerative disease that affects neurons in the brain and the spinal cord, 10 percent of ALS it's genetic, the other 90 percent is considered sporadic.

The new gene, called NEK1, was discovered through a genome-wide search for ALS risk genes in more than 1,000 ALS families, and was independently found through different means in an isolated population in the Netherlands.

Further analysis in more than 13,000 sporadic ALS individuals compared to controls revealed the overrepresentation of variants in the same gene.

is known to have multiple roles in neurons, including maintenance of the cytoskeleton, which gives the neuron its shape and promotes transport within the neuron, regulate the membrane of the mitochondrion, and repair DNA. Disruption of each of these functions through other means has been linked to increased risk of ALS.

NEK1

• The discovery of NEK1 highlights the value of big data in ALS research. The sophisticated gene analysis that led to this finding was only possible because of the large number of ALS samples available.

It is very important to identify this because it helps to develop drugs that can inhibit the effect and also advise families when it is possible to have children with this disease. Also it can focus specifically on what is wrong in the gene and find a way to mitigate its effect and avoid catastrophic signs and symptoms of the disease.

MEDICAL UTILITY MEDICAL UTILITY

Its very important to know the

structure of DNA and its

components because there is all the

genetic material of an organism,

from the knowledge of a normal

DNA with its genetic material, they

can identifiy specific mutations in

the genome thanks to the new

techniques and advances in the

field of biology and medicine, two

areas that are closely related in

preventing the population from

future diseases, which have a

predisposition like timely

identifying the illness of a patient to

a treatment that is focused on the

mutation, drug development to

improve the quality of life of a

patient, and implementing

techniques to treat a specific

mutation.

• Knowing DNA is essential for good medical practice because it is what differentiates every human in the world. Also, knowing genetic material can help make successful treatments, prevention of diseases that can be expressed later because of a genetic predisposition , advise and assist the patient if presents a mutation, and knowing which drug we can use or create to focus on each mutation that may arise.

• Also, it is important in situations when patients with a mutation wish to have children because we can tell themif it´s posible that the children will get the mutation too. We can give them percents of odds and talk with thepatient about the alternatives to have a good life styleand their children.

• Finally it is important to know the DNA, it´s structure and all to determinate as a doctor which kind of disease thepatient has, if it is a monogenic default, chromosomedisorder or something multifactorial, to know the precise cause of the signs and symptoms and help the patientthe best we can.

University of Massachusetts Medical School. (2016, July 25). New gene

variants present in three percent of all ALS patients: Largest-ever study of

inherited ALS identifies new ALS gene, NEK1. ScienceDaily. Retrieved

August 2, 2016 from

www.sciencedaily.com/releases/2016/07/160725151246.htm

King's College London. (2016, July 19). Scientists predict academic

achievement from DNA alone. ScienceDaily. Retrieved August 2, 2016 from

www.sciencedaily.com/releases/2016/07/160719091622.htm

Martínez Sánchez, Lina María. Biología molecular. 8.ed. Medellín: UPB. Fac.Medicina.

BIBLIOGRAPHY