CLN6: Difference between revisions

CLN6[edit]

CLN6 is a gene that encodes a protein involved in the neuronal ceroid lipofuscinoses (NCLs), a group of inherited neurodegenerative disorders. These disorders are characterized by the accumulation of lipopigments in the body's tissues, leading to progressive neurological impairment.

Function[edit]

The CLN6 protein is believed to play a role in the endoplasmic reticulum (ER) and is involved in the processing and transport of proteins within the cell. Although the exact function of CLN6 is not fully understood, it is thought to be crucial for maintaining normal cellular homeostasis and preventing the accumulation of toxic substances.

Genetic Mutations[edit]

Mutations in the CLN6 gene are associated with a variant form of late-infantile neuronal ceroid lipofuscinosis (vLINCL), also known as CLN6 disease. This condition typically presents in childhood and is characterized by seizures, vision loss, motor decline, and cognitive impairment.

Pathophysiology[edit]

The pathophysiology of CLN6-related disorders involves the accumulation of autofluorescent lipopigments in neurons and other cell types. This accumulation leads to cell dysfunction and death, particularly affecting the central nervous system. The exact mechanisms by which CLN6 mutations lead to these pathological changes are still under investigation.

Diagnosis[edit]

Diagnosis of CLN6-related disorders is based on clinical presentation, genetic testing, and sometimes electron microscopy to identify characteristic storage material in cells. Genetic testing can confirm mutations in the CLN6 gene.

Treatment[edit]

Currently, there is no cure for CLN6-related disorders. Treatment is supportive and focuses on managing symptoms, such as seizures and motor difficulties. Research is ongoing to explore potential therapies, including gene therapy and enzyme replacement therapy.

Also see[edit]

Neurodegenerative diseases

Principal diseases	* Alzheimer's disease Parkinson's disease Huntington's disease Amyotrophic lateral sclerosis Tourette syndrome Multiple sclerosis Prion diseases Creutzfeldt-Jakob disease Spinal muscular atrophy
Related disorders	* Frontotemporal dementia Lewy body dementia Spinocerebellar ataxia Charcot-Marie-Tooth disease Progressive supranuclear palsy Corticobasal degeneration Multiple system atrophy
Treatment and management	* Neurorehabilitation Deep brain stimulation Gene therapy in Parkinson's disease Stem cell treatments for neurodegenerative diseases
Research	* Neurodegeneration Protein misfolding Neuroprotective agents Neuroregeneration
Related	* Aging and memory Cognitive decline Neuroplasticity Neuropsychiatry

This Neurodegenerative disease related article is a stub.

Genetic disorders relating to deficiencies of transcription factor or coregulators

(1) Basic domains

1.2	* Feingold syndrome Saethre–Chotzen syndrome
1.3	* Tietz syndrome

(2) Zinc finger
DNA-binding domains

2.1	* (Intracellular receptor): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis
2.2	* Barakat syndrome Tricho–rhino–phalangeal syndrome
2.3	* Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2
2.5	* Autoimmune polyendocrine syndrome type 1

(3) Helix-turn-helix domains

3.1	* ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome
3.2	* PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3
3.3	* FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX
3.5	* IRF6 Van der Woude syndrome Popliteal pterygium syndrome

(4) β-Scaffold factors
with minor groove contacts

4.2	* Hyperimmunoglobulin E syndrome
4.3	* Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome
4.7	* Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome
4.11	* Cleidocranial dysostosis

(0) Other transcription factors

0.6	* Kabuki syndrome

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Latest revision as of 06:03, 17 March 2025

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