The ten best genes in medical genetics – tech2.org

The ten best genes in medical genetics



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The human body is made up of cells, small factories that perform a large part of the action in the body. They form tissues, which make up the organs, which in turn form the body. The cell is, therefore, the final site of action. What cells do is governed by the information that is inside their central office: the nucleus. The information there is packaged in the collection of chromosomes, each of which has this information written in the gene collection. Genes contain this information for what a cell does, and therefore, tissues and organs do, and the body itself does. An error in the information contained in one or several of the genes can be reflected in the form of a malfunction in the tissue, the organ or the body.

This information in the genes is written in the form of DNA molecules, each of which is a long sequence of four molecules, known as "bases", set in a long polymer chain. While the English alphabet has 26 letters and punctuation marks, the alphabet of genes has four bases, called A, G, C and T, as letters. The sequence in which they are arranged causes the genetic words and punctuation marks.

Book of life

The human genome is the collection of information contained in the genes packaged in chromosomes, which in turn are packaged within the nucleus of cells. Our genome is our book of life that contains chromosomes as chapters, each filled with sentences written in the genes, which in turn are encoded in the collection and sequence of the four-letter genetic alphabet.

As the cell reads the information stored in its chromosomes, it performs its action. Most of this action is in the way of translating the genetic language into action molecules called proteins. In essence, it is the reading of the codes in the DNA software that leads to the action in the cell and the "hardware" or the body.

It is an interesting fact of biological history that we had already begun to learn and identify genes before understanding the nature and chemical structure of DNA and the genetic code. The Austrian monk Gregor Mendel, experimenting with pea plants, between 1856 and 1863, identified inherited traits or "factors" (we now call them genes) that make up the color of flowers. That certain traits like hemophilia directed in families were understood as faults in the genes, although the way of reading them in molecular terms was still very far away.

The proteins in the body are made of the message inscribed in the genes. While it was possible to read the sequence of bases in the DNA of genes only in the last 50 years, the reading of the amino acid sequence in the protein chains became popular even in the 1950s. Scientists began to study the properties of proteins badociated with diseases. Even a change in the amino acid sequence can sometimes lead to alterations in the properties of a protein and cause health problems. As Drs. Pauling and Ingram demonstrated more than 70 years ago, the replacement of the amino acid & # 39; glu & # 39; in the sequence of a molecule of hemoglobin by the amino acid & # 39; val & # 39; It changes its properties dramatically, leading to a form of anemia.

Genetic basis of the disease

Frequently, errors of this type arise in the protein sequences due to errors in the sequence of the original genes. Once it was possible to read the DNA sequence in the genes, it led to an understanding of the genetic basis behind the disease, and the field of medical genetics was born. With the rapid pace at which the genetic sequence has developed over the past two decades, medical genetics has flourished rapidly. Cancer genetics is a busy area, and a study of the genes badociated with cancer has become popular. The same goes for the field of understanding the genetic connection with Alzheimer's and similar neuronal disorders.

The issue of November 23 of the journal Nature lists the "Great Successes of the Human Genome". He points out that of the approximately 20,000 genes encoding proteins in the human genome, only 100 accounts for more than a quarter of articles and published scientific reports! And of these 100, there are only 10 more studied genes and, therefore, in High Table.

And of these ten, the topper is the gene for the protein called p53. This protein has a role in the suppression of tumors. It is not surprising that it has been studied in 8,479 publications. Next to p53 is the gene for TNF, which encodes another molecule called tumor necrosis factor, which plays a role in the elimination of tumor cells; this has been discussed in 5,314 publications. Fifth in the list is the gene called APOE, studied in 3,977 documents. The protein encoded APOE is badociated with a risk of Alzheimer's disease. The reason behind these great quotes is the hope that once we understand the molecular basis of a disease, we can devise modes of treatment, which focus on the genetic basis and, therefore, on the cellular basis behind the disease . Thus, the 10 best hits here do not represent a fashion show or an entry to the Guinness Book, but a reflection of attempts to alleviate human suffering through medical genetics.

dbala@lvpei.org

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