How CLN7 Disease Affects the Body

CLN7 disease affects children both cognitively and physically. Symptoms of the disease may include:
Living Batten | CLN5-7 Symptoms Illustration Version 2

Science Behind CLN7 Disease

Living Batten | CLN7 Inheritance Illustration
The underlying cause of CLN7 disease is found in an individual’s genetic code. In humans, each cell contains 23 pairs of chromosomes for a total of 46: 23 from their mother and 23 from their father. The first 22 pairs of chromosomes are autosomes, and they look the same in both males and females. The 23rd pair are sex chromosomes, which are different between males and females. Females have two copies of the X chromosomes (XX) and males have one X and one Y chromosome (XY). A variant in a gene on one of the first 22 autosomes can lead to an autosomal disease.

Autosomal recessive is one of several ways that a disorder or disease is passed down through families. An autosomal recessive disorder occurs when a child inherits two copies of a mutated gene, one from the mother and one from the father. The biological parents, known as carriers, each carry only one copy of the mutated gene, and usually do not show symptoms of the disease.

CLN7 disease is inherited in an autosomal recessive pattern, meaning both copies of the CLN7 gene variant (one from each parent, or carrier) must be present for the child to be diagnosed with CLN7 disease.

Healthy CLN7 Gene

A healthy CLN7 gene provides the body with instructions for building the CLN7 protein. Although the exact function of the protein is unknown, it is thought to transport molecules across the lysosomal membrane — resulting in normal cellular function.

Living Batten | CLN7 Healthy Illustration

CLN7 Variant

People with CLN7 disease have a variant on the CLN7 gene, also known as the MFSD8 gene, located on chromosome 4. When there is a variant or mutation in the CLN7 gene, the body creates a non-functional CLN7 protein that cannot transport molecules across the lysosomal membrane, resulting in lysosomal dysfunction. The lysosome, when unable to function properly, causes an accumulation of molecules throughout the body and causes cell death.

Living Batten | CLN7 Variant Illustration

Although the CLN7 protein is expressed throughout the body, nerve cells seem to be the most impacted, leading to the central nervous system-related signs and symptoms seen in patients who have CLN7.


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