Scientists hail 'revolutionary' kidney gene find

Chronic kidney disease causes the organs to function less effectivel

The identification of 20 genes which could help explain the causes of kidney disease could one day "revolutionise" treatment, researchers say.

Chronic kidney disease affects about one in 10 adults and can require dialysis or even an organ transplant.

The genes identified by the international team of researchers control kidney functions such as filtering waste from the blood.

Experts said the Nature Genetics study was "a great breakthrough".

Chronic kidney disease (CKD) is a long-term condition in which the kidneys progressively lose their function.

These are still early days but it is truly a great breakthrough Charles Kernahan, Kidney Research UK

People tend not to notice symptoms, which can include swollen ankles and hands or blood in the urine, until the condition is advanced.

It is linked to ageing - about one in five men and one in four women aged between 65 and 74 will have some degree of CKD.

The most common cause of CKD is damage caused by other long-term conditions, such as diabetes and high blood pressure.

It was known there was a genetic component to the disease, but not which genes were involved.

'First step'

In this study, an international team of scientists, including researchers at the University of Edinburgh, looked at the genes of nearly 70,000 people across Europe.

They found 13 new genes that influence renal function and seven others that affect the production and secretion of creatinine - a chemical waste molecule that is generated from muscle metabolism and filtered through the kidneys.

Dr Jim Wilson, a geneticist at the University of Edinburgh who worked on the study, said: "This work could revolutionise the treatment of kidney disease in the future - but this will take some time.

"It's a very critical first step towards a completely new understanding of the biology behind CKD. Transferring what we've found into clinical benefits will take some years."

Charles Kernahan, chief executive of the charity Kidney Research UK, said "These are still early days but it is truly a great breakthrough.

"No-one knows who will be affected or when kidney disease may strike next, so even more research needs to be funded to help us tackle this challenge."

(Source: BBC Science and Technology)

Autosomal dominant vs Autosomal recessive

Autosomal dominant

Main article: Autosomal dominant#Autosomal dominant gene

Only one mutated copy of the gene will be necessary for a person to be affected by an autosomal dominant disorder. Each affected person usually has one affected parent. There is a 50% chance that a child will inherit the mutated gene. Conditions that are autosomal dominant often have low penetrance, which means that although only one mutated copy is needed, a relatively small proportion of those who inherit that mutation go on to develop the disease. Examples of this type of disorder are Huntington's disease, Neurofibromatosis 1, Marfan Syndrome, Hereditary nonpolyposis colorectal cancer, and Hereditary multiple exostoses, which is a highly penetrant autosomal dominant disorder. Birth defects are also called congenital anomalies.

Autosomal recessive

Main article: Autosomal dominant#Autosomal recessive allele

Two copies of the gene must be mutated for a person to be affected by an autosomal recessive disorder. An affected person usually has unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers). Two unaffected people who each carry one copy of the mutated gene have a 25% chance with each pregnancy of having a child affected by the disorder. Examples of this type of disorder are cystic fibrosis, sickle-cell disease (also partial sickle-cell disease),Tay-Sachs disease, Niemann-Pick disease, spinal muscular atrophy, and Dry (otherwise known as "rice-brand") earwax.

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What information about a genetic condition can statistics provide?

Statistical data can provide general information about how common a condition is, how many people have the condition, or how likely it is that a person will develop the condition. Statistics are not personalized, however—they offer estimates based on groups of people. By taking into account a person’s family history, medical history, and other factors, a genetics professional can help interpret what statistics mean for a particular patient.

Some statistical terms are commonly used when describing genetic conditions and other disorders. These terms include:

Common statistical terms
Statistical term	Description	Examples
Incidence	The incidence of a gene mutation or a genetic disorder is the number of people who are born with the mutation or disorder in a specified group per year. Incidence is often written in the form “1 in [a number]” or as a total number of live births.	About 1 in 200,000 people in the United States are born with syndrome A each year. An estimated 15,000 infants with syndrome B were born last year worldwide.
Prevalence	The prevalence of a gene mutation or a genetic disorder is the total number of people in a specified group at a given time who have the mutation or disorder. This term includes both newly diagnosed and pre-existing cases in people of any age. Prevalence is often written in the form “1 in [a number]” or as a total number of people who have a condition.	Approximately 1 in 100,000 people in the United States have syndrome A at the present time. About 100,000 children worldwide currently have syndrome B.
Mortality	Mortality is the number of deaths from a particular disorder occurring in a specified group per year. Mortality is usually expressed as a total number of deaths.	An estimated 12,000 people worldwide died from syndrome C in 2002.
Lifetime risk	Lifetime risk is the average risk of developing a particular disorder at some point during a lifetime. Lifetime risk is often written as a percentage or as “1 in [a number].” It is important to remember that the risk per year or per decade is much lower than the lifetime risk. In addition, other factors may increase or decrease a person’s risk as compared with the average.	Approximately 1 percent of people in the United States develop disorder D during their lifetimes. The lifetime risk of developing disorder D is 1 in 100.

How are genetic conditions and genes named?

Naming genetic conditions

Genetic conditions are not named in one standard way (unlike genes, which are given an official name and symbol by a formal committee). Doctors who treat families with a particular disorder are often the first to propose a name for the condition. Expert working groups may later revise the name to improve its usefulness. Naming is important because it allows accurate and effective communication about particular conditions, which will ultimately help researchers find new approaches to treatment.

Disorder names are often derived from one or a combination of sources:
The basic genetic or biochemical defect that causes the condition (for example, alpha-1 antitrypsin deficiency);

One or more major signs or symptoms of the disorder (for example, sickle cell anemia);

The parts of the body affected by the condition (for example, retinoblastoma);
The name of a physician or researcher, often the first person to describe the disorder (for example, Marfan syndrome, which was named after Dr. Antoine Bernard-Jean Marfan);

A geographic area (for example, familial Mediterranean fever, which occurs mainly in populations bordering the Mediterranean Sea); or

The name of a patient or family with the condition (for example, amyotrophic lateral sclerosis, which is also called Lou Gehrig disease after a famous baseball player who had the condition).

Disorders named after a specific person or place are called eponyms. There is debate as to whether the possessive form (e.g., Alzheimer’s disease) or the nonpossessive form (Alzheimer disease) of eponyms is preferred. As a rule, medical geneticists use the nonpossessive form, and this form may become the standard for doctors in all fields of medicine.

Naming genes

The HUGO Gene Nomenclature Committee (HGNC) designates an official name and symbol (an abbreviation of the name) for each known human gene. Some official gene names include additional information in parentheses, such as related genetic conditions, subtypes of a condition, or inheritance pattern. The HGNC is a non-profit organization funded by the U.K. Medical Research Council and the U.S. National Institutes of Health. The Committee has named more than 13,000 of the estimated 20,000 to 25,000 genes in the human genome.

During the research process, genes often acquire several alternate names and symbols. Different researchers investigating the same gene may each give the gene a different name, which can cause confusion. The HGNC assigns a unique name and symbol to each human gene, which allows effective organization of genes in large databanks, aiding the advancement of research. For specific information about how genes are named, refer to the HGNC’s Guidelines for Human Gene Nomenclature .

What are complex or multifactorial disorders?

Researchers are learning that nearly all conditions and diseases have a genetic component. Some disorders, such as sickle cell anemia and cystic fibrosis, are caused by mutations in a single gene. The causes of many other disorders, however, are much more complex. Common medical problems such as heart disease, diabetes, and obesity do not have a single genetic cause—they are likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. Conditions caused by many contributing factors are called complex or multifactorial disorders.

Although complex disorders often cluster in families, they do not have a clear-cut pattern of inheritance. This makes it difficult to determine a person’s risk of inheriting or passing on these disorders. Complex disorders are also difficult to study and treat because the specific factors that cause most of these disorders have not yet been identified. By 2010, however, researchers predict they will have found the major contributing genes for many common complex disorders.

Can changes in mitochondrial DNA affect health and development?

Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). In some cases, inherited changes in mitochondrial DNA can cause problems with growth, development, and function of the body’s systems. These mutations disrupt the mitochondria’s ability to generate energy efficiently for the cell.

Conditions caused by mutations in mitochondrial DNA often involve multiple organ systems. The effects of these conditions are most pronounced in organs and tissues that require a lot of energy (such as the heart, brain, and muscles). Although the health consequences of inherited mitochondrial DNA mutations vary widely, frequently observed features include muscle weakness and wasting, problems with movement, diabetes, kidney failure, heart disease, loss of intellectual functions (dementia), hearing loss, and abnormalities involving the eyes and vision.

Mitochondrial DNA is also prone to noninherited (somatic) mutations. Somatic mutations occur in the DNA of certain cells during a person’s lifetime, and typically are not passed to future generations. Because mitochondrial DNA has a limited ability to repair itself when it is damaged, these mutations tend to build up over time. A buildup of somatic mutations in mitochondrial DNA has been associated with some forms of cancer and an increased risk of certain age-related disorders such as heart disease, Alzheimer disease, and Parkinson disease. Additionally, research suggests that the progressive accumulation of these mutations over a person’s lifetime may play a role in the normal process of aging.