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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Hereditary gelsolin amyloidosis
Sari Kiuru-Enari1, Matti Haltia
1Department of Neurology, Unit for Neuromuscular Diseases, Helsinki University Central Hospital, Helsinki, Finland.
Handbook of Clinical Neurology
|August 13, 2013
Summary
Hereditary gelsolin amyloidosis (HGA) is a rare genetic disorder caused by gelsolin gene mutations. Early diagnosis of this systemic amyloidosis improves patient quality of life, with research ongoing for targeted therapies.
Area of Science:
- Genetics
- Neurology
- Biochemistry
Background:
- Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant systemic amyloidosis.
- Characterized by cranial/sensory neuropathy, corneal lattice dystrophy, and cutis laxa.
- Caused by gelsolin gene mutations (G654A/G654T), leading to variant gelsolin and amyloid deposition.
Purpose of the Study:
- To review the current understanding of HGA.
- To highlight diagnostic and therapeutic challenges and opportunities.
- To discuss the implications of HGA research for other amyloidoses.
Main Methods:
- Literature review of HGA cases and research.
- Analysis of gelsolin's role in cellular processes.
- Examination of available HGA models.
Main Results:
- HGA is increasingly reported globally but may be underdiagnosed.
- Gelsolin protein is crucial for nervous system functions.
- Variant gelsolin (AGel) deposition drives HGA pathology.
Conclusions:
- No specific therapy for HGA exists, but diagnosis enables symptomatic treatment.
- A transgenic mouse model aids research into new treatments.
- Insights from HGA may benefit other hereditary and sporadic amyloidoses.
Keywords:
Meretoja's diseaseamyloid angiopathycorneal lattice dystrophycutis laxafacial palsyfamilial amyloid polyneuropathy IVgelsolingelsolin amyloidosishereditary amyloidosisperipheral neuropathyMore Related Videos
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