10/22/2024 / By Ethan Huff
The National Gaucher Foundation (NGF) published a fact sheet highlighting the five most common genetic diseases among Ashkenazi Jews, a highly insulated group of people with a common ancestry (i.e. “inbreeding).
With so much focus on Israel these days, including Israeli Prime Minister and Ashkenazi Jew Benjamin Netanyahu, it is worth highlighting that many from this particular ancestry are more prone than others to a variety of serious illnesses, some of which are mental disorders.
While it is certainly true that anyone is prone to getting sick, Ashkenazi Jews are said to be more prone because of “specific gene mutations,” according to the National Gaucher Foundation.
“Scientists call this propensity to developing disease the Founder Effect,” the group says. “Hundreds of years ago, mutations occurred in the genes of certain Ashkenazi Jews. The carriers of these newly mutated genes were unaffected by them, but their descendants were at greater risk for developing genetic diseases as a result of inheriting mutated genes.”
“Over the course of Jewish history, many mutated genes, including the gene responsible for Gaucher disease, GBA1, were passed on from generation to generation” (due to inbreeding).
In order for someone who is Ashkenazi Jewish to develop one of the following five most common genetic diseases within this particular people group, two mutations from the same disease must be inherited. If a child is born to two parents who carry a mutation in the same gene, there are multiple potential outcomes, including no disease at all.
1) Gaucher Disease:
One out of every 10 Ashkenazi Jews carries the mutated gene responsible for Gaucher disease, which comes in three different types, type 1 being the only treatable one. Gaucher disease results from a deficiency in glucocerebrosidase (GCase).
2) Cystic Fibrosis:
Affecting one out of every 24 Ashkenazi Jews, cystic fibrosis is when the normally thin, slippery mucus that forms in the lungs and digestive tract as part of normal physiological processes becomes thicker and stickier, resulting in damage to the lungs and other internal organs. While there are ways to manage the disease, cystic fibrosis usually takes a person’s life in the mid- to late-30s.
3) Tay-Sachs Disease:
This neurological disease results from mutations of the HEXA gene and is characterized by progressive deterioration of neurons, or nerve cells, in both the brain and spinal cord. It is caused by the shortage of an enzyme necessary to break down fatty substances throughout the body and has no known cure.
4) Familial Dysautonomia:
Affecting one in 31 Ashkenazi Jews, familiar dysautonomia usually starts showing symptoms right when a baby is born. It causes changes to nerves within the autonomic nervous system that control all sorts of involuntary bodily functions such as blood pressure, heart rate and digestion. While it is treatable, familial dysautonomia usually results in shortened lifespan.
5) Spinal Muscular Atrophy:
Sufferers of spinal muscular atrophy, a disease that afflicts one out of every 41 Ashkenazi Jews, suffer the loss of muscle control and movement due to low numbers of specialized nerve cells called motor neurons that live inside the brainstem and spinal cord. While there is no cure for the disease, spinal muscular atrophy can be managed with certain treatments.
The NGF and another community-based public health initiative called JScreen is raising awareness about Gaucher disease and other genetic illnesses common among Ashkenazi Jews.
“We want people to understand that most conditions we’re screening for are inherited in an autosomal recessive way,” commented Karen Arnovitz Grinzaid, executive director of JScreen.
“In order for a child to be affected, both parents need to be carriers for the same disease. Each time they have a pregnancy, there’s a 25 percent risk. In almost 80 percent of cases where a baby is born with one of these genetic conditions, they’re born to a couple with no family history of this condition.”
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Ashkenazi, brain damaged, brain health, cystic fibrosis, digestion, DNA mutations, familiar dysautonomia, Gaucher disease, genetic diseases, genetic lunacy, genetics, gut health, health science, Israel, jewish, liver damage, liver health, nervous system, neurological disease, spinal muscular atrophy, Tay-Sachs disease
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